Agranulocytosis Aplastic Anemia
Clozapine Chloramphenicol NSAIDs
Atropine-like Side Effects Cardiotoxicity Cartilage Damage in children Cinchonism Coronary Steal Phenomenon Corneal micro deposits Cough Diabetes Insipidus Disulfiram-like effect
Benzene Tricyclics Doxorubicin Daunorubicin (Ciprofloxacin & Norfloxacin) Fluoroquinolones (Ciprofloxacin Quinidine Dipyridamole Amiodarone ACE Inhibitors Lithium Metronidazole
Sulfonylureas Sulfonylureas (1st generation) Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine)
Extrapyramidal Extrapyramidal Side Effects Fanconi’s Syndrome Fatal Hepatotoxicity (necrosis) Gingival Hyperplasia Gray Baby Syndrome Gynecomastia
Hand Foot Syndrome Hemolytic Anemia in G6PDdeficiency
Hemorrhagic Cystitis
Hepatitis
Tetracycline Valproic Acid
Halothane Acetaminophen Phenytoin Chloramphenicol Cimetidine Azoles Spironolactone Digitalis Estrogen & testosterone INH & ethionamide Clomiphine Phenytoin Reserpine & Methyldopa 5Flurouracil (5-FU) Sulfonamides Isoniazid Aspirin Ibuprofen Primaquine Cyclophosphamide Ifosamide (Treat by Mesna & Acetylcysteine Acetylcystei ne Bladder Wash) Isoniazid
Hot Flashes, Flushing
Niacin
Hypertension: Hypertension: Postural Hypertension: Hypertension: Rebound Increased intra cranial tension ( ICT)
Induce CP450
Inhibit CP450
Interstitial Nephritis Nephritis
Milk Alkali Syndrome Monday Disease
Nephrotoxicity
Orange Body Fluids Osteoporosis Pancreatitis Photosensitivity Positive Coombs’ Test Pulmonary Fibrosis Rabbit Syndrome (Perioral tremors) Red Man Syndrome Severe HTN with Tyramine
Tamoxifen Ca++ Channel Blockers Prazocin Clonidine withdrawal Amiodarone Hypervitaminosis Hypervitaminosis A OCP’s Tetracycline Quinolones Barbiturates Phenytoin Carbamazepine Rifampin Cimetidine Erythromycin Ketoconazole Isoniazid (INH) [remember CEKI] Methicillin NSAIDs (except Aspirin) Furosemide Sulfonamides Calcium Carbonate (CaCo3) Nitroglycerin Industrial exposure tolerance during week loss of tolerance during weekend headache, tach, dizziness upon reexposure Cephaloridine Gentamycin Amphotericin Rifampin Heparin Corticosteroids L-Asparginase Glucocorticoids Lomefloxacin Pefloxacin Methyldopa Bleomycin Amiodarone Phenothiazines Vancomycin MAOIs
(rapid IV)
SLE- Drug Induced [Anti Histone Antibody Characteristic of this]
Chloropromazine H ydralazine Isoniazid Methyldopa Procainamide Quinidine [ remember CHIMP -Q]
Tardive Dyskinesia Tinnitus
Antipsychotics
Torsades de Pontis
Terfanadine
(Thioridazine, Haloperidol, Chlorpromazine)
Aspirin Quinidine
Most Common's in medical science 1 Tumor arising from bone in adults Adrenal Medullary Tumor – Adults Adrenal Medullary Tumor – Children Bacterial Meningitis – adults Bacterial Meningitis – elderly Bacterial Meningitis – newborns Bacterial Meningitis – toddlers Bone Tumors Brain Tumor – Child Brain Tumor –Adult Breast Carcinoma Breast Mass Bug in Acute Endocarditis Bug in debilitated, hospitalized pneumonia pt Bug in Epiglottitis Bug in GI Tract Bug in IV drug user bacteremia / pneumonia Bug in PID Bug in Subacute Endocarditis Cardiac 1 Tumor – Adults Cardiac 1 Tumor – Child Cardiac Tumor – Adults Cardiomyopathy Cause of 2 HTN Cause of Addison’s Cause of Congenital Adrenal Hyperplasia
Multiple
Myeloma Pheochromocytoma Neuroblastoma Neisseria meningitidis Strep pneumoniae E. coli Hib Metasteses from Breast & Prostate Medulloblastoma (cerebellum) Astrocytoma (including Glioblastoma Multiforme) then: mets, meningioma, Schwannoma Invasive Duct Carcinoma Fibrocystic Change (Carcinoma is the most common is postmenopausal women) Staph aureus Klebsiella Hib Bacteroides (2nd – E. coli) Staph aureus N. Gonnorrhoeae Strep Viridans Myxoma “Ball Valve” Rhabdomyoma Metasteses Dilated (Congestive) Cardiomyopathy Renal Disease nd Autoimmune (2 – infection) 21-Hydroxylase Deficiency (then, 11-)
Cause of Cushings Cause of death in Alzheimer pts Cause of death in Diabetics Cause of Death in SLE pts. Cause of Dementia Cause of Dementia (2nd most common) Cause of food poisoning Cause of mental retardation Cause of mental retardation (2nd most common) Cause of preventable blindness Cause of Pulmonary HTN Cause of SIADH Chromosomal disorder Congenital cardiac anomaly Congenital early cyanosis Coronary Artery thrombosis Demyelinating Disease Dietary Deficiency Disseminated opportunistic infection in AIDS Esophageal cancer Fatal genetic defect in Caucasians Female Tumor Form of Amyloidosis Form of Tularemia Gynecologic malignancy Heart Murmur Heart Valve in bacterial endocarditis Heart Valve in bacterial endocarditis in IV drug users Heart Valve involved in Rheumatic Fever Hereditary Bleeding Disorder Liver 1 Tumor Liver Disease Location of Adult brain tumors Location of Childhood brain tumors Lysosomal Storage Disease Motor Neuron Disease Neoplasm – Child Neoplasm – Child (2nd most common) Nephrotic Syndrome Opportunistic infection in AIDS Ovarian Malignancy
Exogenous
Steroid Therapy (then, 1 ACTH, Adrenal Adenoma, Ectopic ACTH) Pneumonia MI Lupus Nephropathy Type IV (Diffuse Proliferative) Alzheimer’s Multi-Infarct Dementia Staph aureus Down’s Fragile X Chlamydia COPD Small Cell Carcinoma of the Lung Down’s VSD (membranous > muscular) Tetralogy of Fallot LAD Multiple Sclerosis Iron CMV (Pneumocystis carinii is most common overall) SCCA Cystic Fibrosis Leimyoma Immunologic (Bence Jones protein in multiple myeloma is also called the Amyloid Light Chain) Ulceroglandular Endometrial Carcinoma Mitral Valve Prolapse Mitral Tricuspid
Mitral
then Aortic Von Willebrand’s Disease Hepatoma Alcoholic Liver Disease Above Tentorium Below Tentorium Gaucher’s ALS Leukemia Medulloblastoma of brain (cerebellum) Membranous Glomerulonephritis PCP Serous Cystadenoma
Hamartoma
Ovarian Tumor Pancreatic Tumor Patient with ALL / CLL / AML / CML
Adeno
Patient with Goodpasture’s Patient with Reiter’s Pituitary Tumor Primary Hyperparathyroidism Pt. With Hodgkin’s Pt. With Minimal Change Disease Secondary Hyperparathyroidism Sexually transmitted disease Site of Diverticula Site of metastasis Site of metastasis (2nd most common) Sites of atherosclerosis Skin Cancer Stomach cancer Testicular Tumor Thyroid Cancer Tracheoesophageal Fistula Tumor of Infancy Type of Hodkin’s Type of Non-Hodgkin’s Vasculitis (of medium & small arteries) Viral Encephalitis
(usually in the head) ALL - Child / CLL - Adult over 60 / AML - Adult over 60 / CML - Adult 35-50 Young male Male nd Prolactinoma (2 – Somatotropic “Acidophilic” Adenoma) Adenomas (followed by: hyperplasia, then carcinoma) Young Male (except Nodular Sclerosis type – Female) Young Child Hypocalcemia of Chronic Renal Failure Chlamydia Sigmoid Colon Regional Lymph Nodes Liver Abdominal aorta > coronary > popliteal > carotid Basal Cell Carcinoma Adeno Seminoma Papillary Carcinoma Lower esophagus joins trachea / upper esophagus – blind pouch Hemangioma Mixed Cellularity (versus: lymphocytic predominance, lymphocytic depletion, nodular sclerosis) Follicular, small cleaved Temporal Arteritis HSV
Hallmark Findings Albumino-Cytologic Dissociation Antiplatelet Antibodies Arachnodactyly Aschoff Bodies Auer Rods Autosplenectomy Babinski Basophilic Stippling of RBCs Bence Jones Protein
Guillain-Barre
(markedly increased protein in CSF with only modest increase in cell count) idiopathic thrombocytopenic purpura Marfan’s rheumatic fever acute promyelocytic leukemia (AML type M3) sickle cell anemia UMN lesion lead poisoning multiple myeloma free light chains (either kappa or lambda) Waldenstrom’s
Birbeck Granules Blue Bloater
macroglobinemia histiocytosis X (eosinophilic granuloma) Chronic Bronchitis
Boot-Shaped Heart Bouchard’s Nodes Boutonniere’s Deformity Brown Tumor Brushfield Spots Call-Exner Bodies Cardiomegaly with Apical Atrophy Chancre Chancroid Charcot Triad Charcot-Leyden Crystals Cheyne-Stokes Breathing Chocolate Cysts Chvostek’s Sign Clue Cells Codman’s Triangle Cold Agglutinins Condyloma Lata Cotton Wool Spots Councilman Bodies Crescents In Bowman’s Capsule Currant-Jelly Sputum Curschmann’s Spirals Depigmentation Of Substantia Nigra Donovan Bodies Eburnation Ectopia Lentis Erythema Chronicum Migrans Fatty Liver Ferruginous Bodies Ghon Focus / Complex Gower’s Maneuver Heberden’s Nodes Heinz Bodies Hemorrhagic Urticaria Heterophil Antibodies lid windowtext .75pt; msoborder-top-alt:solid
Tetralogy
of Fallot osteoarthritis (PIP) rheumatoid arthritis hyperparathyroidism Down’s granulosa cell tumor Chagas’ Disease 1 Syphilis Haemophilus ducreyi multiple
sclerosis (nystagmus, intention tremor, scanning speech) bronchial asthma cerebral lesion endometriosis Hypocalcemia facial spasm in tetany Gardnerella vaginitis osteosarcoma Mycoplasma pneumoniae infectious mononucleosis 2 Syphilis HTN dying hepatocytes rapidly progressive
(crescentic glomerulonephritis)
Klebsiella bronchial asthma Parkinson’s
granuloma
inguinale (STD) osteoarthritis (polished, ivory-like appearance of bone) Marfan’s Lyme Disease Alcoholism asbestosis Tuberculosis (1 &
2 , respectively) Duchenne’s MD use of arms to stand Osteoarthritis (DIP) G6PDH Deficiency Henoch-Schonlein infectious mononucleosis (EBV)
windowtext .75pt;msoborder-left-alt:solid windowtext .75pt; padding:0in 5.4pt 0in 5.4pt"> infectious mononucleosis
(EBV) Hirano Bodies Hypersegmented PMNs Hypochromic Microcytic RBCs Jarisch-Herxheimer Reaction Joint Mice Kaussmaul Breathing Keratin Pearls Keyser-Fleischer Ring Kimmelstiel-Wilson Nodules Koilocytes Koplik Spots Lewy Bodies Lines of Zahn Lisch Nodules Lumpy-Bumpy IF Glomeruli McBurney’s Sign Michealis-Gutmann Bodies Monoclonal Antibody Spike Myxedema Negri Bodies Neuritic Plaques Neurofibrillary Tangles Non-pitting Edema Notching of Ribs Nutmeg Liver Painless Jaundice Pannus Pautrier’s Microabscesses Philadelphia Chromosome
Alzheimer’s Megaloblastic anemia iron-deficiency anemia
Syphilis over-aggressive treatment of an asymptomatic pt. that causes symptoms 2 to rapid lysis osteoarthritis (fractured osteophytes) acidosis SCCA Wilson’s diabetic nephropathy HPV measles Parkinson’s (eosinophilic inclusions in damaged substantia nigra cells) arterial thrombus neurofibromatosis (von Recklinhausen’s disease) poststreptococcal glomerulonephritis appendicitis (McBurney’s Point is 2/3 of the way from the umbilicus to anterior superior iliac spine) Malakoplakia multiple myeloma this is called the M protein (usually IgG or IgA) MGUS hypothyroidism rabies Alzheimer’s Alzheimer’s Myxedema Anthrax Toxin Coarctation of Aorta CHF pancreatic CA (head) rheumatoid arthritis mycosis fungoides (cutaneous T-cell lymphoma) CML ALL
Pick Bodies Pink Puffer Podagra Port-Wine Stain Posterior Anterior Drawer Sign Posterior Anterior Drawer Sign Psammoma Bodies
Pseudohypertrophy Punched-Out Bone Lesions Rash on Palms & Soles Red Morning Urine Reed-Sternberg Cells Reid Index Increased Reinke Crystals Rouleaux Formation S3 Heart Sound
S4 Heart Sound Schwartzman Reaction Simian Crease Smith Antigen Soap Bubble on X-Ray Spike & Dome Glomeruli String Sign on X-ray Target Cells Tendinous Xanthomas Thyroidization of Kidney Tophi Tram-Track Glomeruli Trousseau’s Sign
Virchow’s Node
Pick’s Disease Emphysema
Centroacinar – smoking
Panacinar - 1-antitrypsin
deficiency gout (MP joint of hallux) Hemangioma Hemangioma tearing
of the ACL
Papillary adenocarcinoma of
the thyroid Serous papillary cystadenocarcinoma of the ovary Meningioma Mesothelioma Duchenne muscular dystrophy multiple myeloma 2 Syphilis RMSF paroxysmal nocturnal hemoglobinuria Hodgkin’s Disease chronic bronchitis Leydig cell tumor multiple myeloma RBC’s stacked as poker chips LR Shunt (VSD, PDA) Mitral Regurg LV Failure Pulmonary Stenosis Pulmonary HTN Neisseria meningitidis impressive rash with bugs Down’s SLE (also anti-dsDNA) giant cell tumor of bone membranous glomerulonephritis Crohn’s bowel wall thickening Thalassemia Familial Hypercholesterolemia chronic pyelonephritis gout membranoproliferative glomerulonephritis visceral ca, classically pancreatic (migratory thrombophlebitis) hypocalcemia (carpal spasm)
These are two entirely different disease processes and different signs, but they unfortunately have the same name. supraclavicular node enlargement by metastatic carcinoma of the
Warthin-Finkeldey Giant Cells WBC Casts Wire Loop Glomeruli AFP in amniotic fluid or mother’s serum Uric Acid
stomach Measles pyelonephritis lupus nephropathy, type IV Spina Gout
Lesch Nyhan Myeloproliferative Disorders Diuretics (Loop & Thiazides)
FEV1/FVC
Bifida Anencephaly
COPD
Named Diseases List
Addison’s Disease Addisonian Anemia Albright’s Syndrome Alport’s Syndrome Alzheimer’s Argyll-Robertson Pupil
primary adrenocortical deficiency pernicious anemia (antibodies to intrinsic factor or parietal cells IF Vit B12 megaloblastic anemia) polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls hereditary nephritis with nerve deafness progressive dementia
loss of light reflex constriction (contralateral or bilateral)
“Prostitute’s Eye” - accommodates but does not react
Arnold-Chiari Malformation Barrett’s Bartter’s Syndrome Becker’s Muscular Dystrophy Bell’s Palsy Berger’s Disease Bernard-Soulier Disease Berry Aneurysm Bowen’s Disease Briquet’s Syndrome Broca’s Aphasia Brown-Sequard Bruton’s Disease Budd-Chiari Buerger’s Disease Burkitt’s Lymphoma
Pathognomonic for 3 Syphilis cerebellar tonsil herniation
columnar metaplasia of lower esophagus (
risk of adenocarcinoma)
hyperreninemia similar to Duchenne, but less severe (deficiency in dystrophin protein) CNVII palsy (entire face; recall that UMN lesion only affects lower face) IgA nephropathy defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein) circle of Willis (subarachnoid bleed) often associated with ADPKD carcinoma in situ on shaft of penis ( risk of visceral ca) somatization disorder psychological: multiple physical complaints without physical pathology Motor Aphasia intact comprehension hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN) X-linked agammaglobinemia post-hepatic venous thrombosis acute inflammation of small, medium arteries small noncleaved cell lymphoma EBV
painful ischemia gangrene
Caisson Disease Chagas’ Disease Chediak-Higashi Disease Conn’s Syndrome Cori’s Disease Creutzfeldt-Jakob Crigler-Najjar Syndrome Crohn’s
8:14 translocation gas emboli
Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy repeated infections primary aldosteronism glycogen storage disease (debranching enzyme deficiency) prion infection cerebellar & cerebral degeneration congenital hyperbilirubinemia (unconjugated) glucuronyl transferase deficiency IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, colon cancer risk) Curling’s Ulcer Cushing’s Cushing’s Ulcer de Quervain’s Thyroiditis DiGeorge’s Syndrome Down’s Syndrome Dressler’s Syndrome Dubin-Johnson Syndrome Duchenne Muscular Dystrophy Edwards’ Syndrome Ehler’s-Danlos Eisenmenger’s Complex Erb-Duchenne Palsy Ewing Sarcoma Eyrthroplasia of Queyrat Fanconi’s Syndrome Felty’s Syndrome Gardner’s Syndrome Gaucher’s Disease Gilbert’s Syndrome Glanzmann's Thrombasthenia Goodpasture’s Grave’s Disease Guillain-Barre
acute gastric ulcer associated with severe burns Disease: hypercorticism 2 to ACTH from pituitary (basophilic adenoma) Syndrome: hypercorticism of all other causes (1 adrenal or ectopic) acute gastric ulcer associated with CNS trauma self-limiting focal destruction (subacute thyroiditis) thymic hypoplasia T-cell deficiency hypoparathyroidism trisomy 21 or translocation Post-MI Fibrinous Pericarditis autoimmune congenital hyperbilirubinemia (conjugated) striking brown-to-black discoloration of the liver (centilobular portion) deficiency of dystrophin protein MD X-linked recessive trisomy 18 rocker-bottom feet, low ears, heart disease defective collagen late cyanotic shunt (R L) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA trauma to superior trunk of brachial undifferentiated round cell tumor of bone
plexus Waiter’s Tip
carcinoma in situ on glans penis impaired proximal tubular reabsorption 2 to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis) rheumatoid arthritis, neutropenia, splenomegaly adenomatous polyps of colon plus osteomas & soft tissue tumors Lysosomal Storage Disease glucocerebrosidase deficiency hepatosplenomegaly, femoral head & long bone erosion, anemia benign congenital hyperbilirubinemia (unconjugated) defective glycoproteins on platelets autoimmune: ab’s to glomerular & autoimmune hyperthyroidism (TSI)
alveolar basement membranes
idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
Hamman-Rich Syndrome Hand-Schuller-Christian Hashimoto’s Thyroiditis Hashitoxicosis Henoch-Schonlein purpura Hirschprung’s Disease Horner’s Syndrome Huntington’s Jacksonian Seizures Job’s Syndrome Kaposi Sarcoma Kartagener’s Syndrome Kawasaki Disease Klinefelter’s Syndrome Kluver-Bucy Krukenberg Tumor Laennec’s Cirrhosis Lesch-Nyhan Letterer-Siwe Libman-Sacks Lou Gehrig’s Mallory-Weis Syndrome Marfan’s McArdle’s Disease Meckel’s Diverticulum Meig’s Syndrome Menetrier’s Disease Monckeberg’s Arteriosclerosis Munchausen Syndrome Nelson’s Syndrome Niemann-Pick Osler-Weber-Rendu Syndrome Paget’s Disease Pancoast Tumor Parkinson’s Peutz-Jegher’s Syndrome
idiopathic pulmonary fibrosis chronic progressive histiocytosis autoimmune hypothyroidism initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism hypersensivity vasculitis hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement) associated with upper respiratory infections aganglionic megacolon ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2 to a pancoaset tumour) progressive degeneration of caudate nucleus, putamen & frontal cortex; AD epileptic events originating in the primary motor cortex (area 4) immune deficiency: neutrophils fail to respond to chemotactic stimuli malignant vascular tumor (HHV8 in homosexual men) immotile cilia 2 to defective dynein arms infection, situs inversus, sterility mucocutaneous lymph node syndrome (lips, oral mucosa) 47, XXY bilateral lesions of amygdala (hypersexuality; oral behavior) adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries alcoholic cirrhosis HGPRT deficiency gout, retardation, self-mutilation acute disseminated Langerhans’ cell histiocytosis endocarditis with small vegetations on valve leaflets associated with SLE Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons bleeding from esophagogastric lacerations 2 to wretching (alcoholics) connective tissue defect glycogen storage disease (muscle phosphorylase deficiency) rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.) Triad: ovarian fibroma, ascites, hydrothorax giant hypertrophic gastritis (enlarged rugae; plasma protein loss) calcification of the media (usually radial & ulnar aa.) factitious disorder (consciously creates symptoms, but doesn’t know why) 1 Adrenal Cushings surgical removal of adrenals loss of negative feedback to pituitary Pituitary Adenoma Lysosomal Storage Disease sphingomyelinase deficiency “foamy histiocytes” Hereditary Hemorrhagic Telangiectasia abnormal bone architecture (thickened, numerous fractures bronchogenic tumor with superior sulcus i nvolvement dopamine depletion in nigrostriatal tracts
pain)
Horner’s Syndrome
melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine
Peyronie’s Disease Pick’s Disease Plummer’s Syndrome
subcutaneous fibrosis of dorsum of penis
Plummer-Vinson Pompe’s Disease Pott’s Disease Potter’s Complex Raynaud’s
esophageal webs & iron-deficiency anemia, SCCA of esophagus
Reiter’s Syndrome Reye’s Syndrome Riedel’s Thyroiditis Rotor Syndrome Sezary Syndrome Shaver’s Disease Sheehan’s Syndrome Shy-Drager Simmond’s Disease Sipple’s Syndrome Sjogren’s Syndrome Spitz Nevus Stein-Leventhal Stevens-Johnson Syndrome Still’s Disease Takayasu’s arteritis Tay-Sachs Tetralogy of Fallot Tourette’s Syndrome Turcot’s Syndrome Turner’s Syndrome Vincent’s Infection von Gierke’s Disease von Hippel-Lindau
progressive
dementia similar to Alzheimer’s hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs) glycogen storage disease cardiomegaly tuberculous osteomyelitis of the vertebrae renal agenesis oligohydramnios hypoplastic lungs, defects in extremities Disease: recurrent vasospasm in extremities Phenomenon: 2 to underlying disease (SLE or scleroderma) urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular microvesicular fatty liver change & encephalopathy 2 to aspirin ingestion in children following viral illness idiopathic fibrous replacement of thyroid congenital hyperbilirubinemia (conjugated) similar to Dubin-Johnson, but no discoloration of the liver leukemic form of cutaneous T-cell lymphoma (mycosis fungoi des) aluminum inhalation lung fibrosis postpartum pituitary necrosis parkinsonism with autonomic dysfunction & orthostatic hypotension pituitary cachexia MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid) triad: dry eyes, dry mouth, arthritis
risk of B-cell lymphoma
juvenile melanoma (always benign) polycystic ovary erythema multiforme, fever, malaise, mucosal ulceration (often 2 to infection or sulfa drugs) juvenile rheumatoid arthritis (absence of rheumatoid factor) aortic arch syndrome loss of carotid, radial or ulnar pulses gangliosidosis (hexosaminidase A deficiency
GM2 ganglioside)
VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy involuntary actions, both motor and vocal adenomatous polyps of colon plus CNS tumors 45, XO “trench mouth” - acute necrotizing ulcerative gingivitis glycogen storage disease (G6Pase deficiency) hemangioma (or hemangioblastoma) adenomas of the viscera, especially renal cell carcinoma neurofibromatosis & café au lait spots
von Recklinghausen’s von Recklinghausen’s Disease osteitis fibrosa cystica (“brown tumor”) 2 to hyperparathyroidism of Bone defect in platelet adhesion 2 to deficiency in vWF von Willebrand’s Disease proliferation of IgM-producing lymphoid cells Waldenstrom’s macroglobinemia
Wallenberg’s Syndrome Waterhouse-Friderichsen Weber’s Syndrome Wegener’s Granulomatosis Weil’s Disease Wermer’s Syndrome Wernicke’s Aphasia Wernicke-Korsakoff Syndrome Whipple’s Disease Wilson’s Disease Wiskott-Aldrich Syndrome Wolff-Chaikoff Effect Zenker’s Diverticulum Zollinger-Ellison
Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp catastrophic adrenal insufficiency 2 to hemorrhagic necrosis (eg, DIC) often 2 to meningiococcemia Paramedian Infarct of Midbrain Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body) necrotizing granulomatous vasculitis of paranasal si nuses, lungs, kidneys, etc. leptospirosis MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary) Sensory Aphasia impaired comprehension
thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia, ophthalmoplegia) malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin) immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema) high iodine level ( )’s thyroid hormone synthesis esophageal; cricopharyngeal muscles above UES gastrin-secreting tumor of pancreas (or intestine) Increased Acid Output.
acid intractable ulcers, Increased gastrin +
SELECTED GENETIC DISORDERS
Disease
Category
Pathogenesis / Heredity
Pathology, Cardinal Symptoms
Cystic Fibrosis
Autosomal Recessive. CFTR gene -
Meconium ileus (caused
defect on Chrom 7 ------> No Cl
by thick, mucoid
transport and failure to hydrate
meconium), respiratory
mucous secretions (no NaCl
bronchiectasis,
transport) ------> excessively
Pseudomonas
viscous mucoid exocrine secretions
pneumonia, pancreatic insufficiency, hypertonic -
(high Cl concentration) sweat.
Fanconi Anemia
Syndrome”
Autosomal Recessive congenital
Normocytic anemia with
pancytopenia.
neutropenia.
Short stature,
microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia. Hartnup's Disease
Autosomal Recessive. Defect in GI
Pellagra-like syndrome
uptake of neutral amino acids ------
(diarrhea, dementia,
> malabsorption of tryptophan
dermatitis), light-
(niacin precursor) ------> niacin
sensitive skin rash,
deficiency among other things.
temporary cerebellar ataxia.
Kartagener's
Autosomal Recessive. Defect in
Recurrent
Syndrome
dynein arms ------> lost motility of
sinopulmonary
cilia
infections (due to impaired ciliary tract). Situs inversus , due to
impaired ciliary motion during embryogenesis: lateral transposition of lungs, abdominal and thoracic viscera are on opposite sides of the body as normal. Possible dextrocardia, male sterility.
Pyruvate
Autosomal Recessive. Pyruvate
Dehydrogenase
Dehydrogenase deficiency ------>
Deficiency
buildup of lactate and pyruvate -----> lactic acidosis.
Neurologic defects.
Treatment: Increase intake of ketogenic nutrients ( leucine, lysine) ------> increase formation of AcetylCoA from other sources.
Xeroderma
Autosomal Recessive. Defect in
Dry skin, melanomas,
Pigmentosum
DNA repair, inability to repair
pre-malignant lesions,
thymine dimers resulting from UV-
other cancers.
light exposure ------> excessive skin
Ophthalmic and
damage and skin cancer.
neurologic abnormalities.
Familial
Autosomal
Autosomal Dominant. LDL-
Heterozygous:
Hypercholesterolemia
Dominant
Receptor defect.
accelerated
Disorders
atherosclerosis. Homozygous: accelerated atherosclerosis, MI by age 35, xanthomas .
Hereditary
Autosomal
Hemorrhagic
Dominant
Telangiectasia (Osler-
Disorders
Autosomal Dominant.
Telangiectasias of skin and mucous membranes.
Weber-Rendu Syndrome)
Hereditary
Autosomal
Autosomal Dominant. Band-3
Sequestration of
Spherocytosis
Dominant
deficiency in RBC membrane ------>
spherocytes in spleen ----
Disorders
spherical shape to cells. Other RBC
--> hemolytic anemia.
structural enzyme deficiencies can cause it, too.
Huntington's Disease
Autosomal
Autosomal Dominant, 100%
Progressive dementia
Dominant
penetrance.
with onset in adulthood,
Disorders
Marfan's Syndrome
choreiform movements,
Genetic defect on Chrom 4 -----> atrophy of caudate nuclei, putamen, frontal cortex.
athetosis.
Autosomal
Autosomal Dominant. Fibrillin
Arachnodactyly,
Dominant
deficiency ------> faulty scaffolding
dissecting aortic
Disorders
in connective tissue (elastin has no
aneurysms, ectopia lentis
anchor).
(subluxation of lens), mitral valve prolapse.
Neurofibromatosis
Autosomal
Autosomal Dominant. NF1 gene
Multiple neurofibromas
(Von Recklinghausen
Dominant
defect (no GTPase protein) ------>
(Café au Lait spots) which
Disease)
Disorders
dysregulation of Ras tumor-
may become malignant,
Lisch nodules (pigmented
suppressor protein.
hamartomas of the iris).
Increased risk for tumors: pheochromocytoma, Wilms tumor, Rhabdomyosarcoma, leukemias. Tuberous Sclerosis
Autosomal
Autosomal Dominant.
Tubers (glial nodules),
Dominant
seizures, mental
Disorders
retardation. Associated with adenoma sebaceum (facial lesion), myocardial rhabdomyomas, renal
angiomyolipomas .
Von Hippel-Lindau
Autosomal
Autosomal Dominant, short arm of
(1) Hemangioblastomas
Syndrome
Dominant
chromosome 3. Same genetic
of cerebellum, medulla,
Disorders
region is associated with incidence
or retina, (2) adenomas,
of renal cell carcinoma.
(3) cysts in visceral organs. High risk for renal cell carcinoma.
Congenital Fructose
Carbohydrate
Autosomal Recessive. Aldolase B
Severe hypoglycemia.
Intolerance
Metabolism
deficiency ------> buildup of
Treatment: Remove
Defect
Fructose-1-Phosphate in tissues ---
fructose from diet.
---> inhibit glycogenolysis and gluconeogenesis.
Galactosemia
Carbohydrate
Autosomal Recessive. Inability to
Failure to thrive, infantile
Metabolism
convert galactose to glucose ------>
cataracts, mental
Defect
accumulation of galactose in many
retardation. Progressive
tissues.
hepatic failure, cirrhosis, death.
(1) Classic form: Galactose-1phosphate Uridyltransferase deficiency. (2) Rarer form: Galactokinase deficiency.
Galactokinasedeficiency: infantile cataracts are prominent. Treatment: in either
case, remove galactose from diet. Angelman Syndrome
Chromosomal
Deletion of part of short arm of
Mental retardation,
chromosome 15, maternal copy .
ataxic gait, seizures.
An example of genomic
Inappropriate laughter.
imprinting.
Cri du Chat Syndrome
Chromosomal
5p-, deletion of the long arm of
"Cry of the cat." Severe
chromosome 5.
mental retardation, microcephaly, cat-like cry. Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds.
Down Syndrome
Chromosomal
(Trisomy 21)
Trisomy 21, with risk increasing
Most common cause of
with maternal age. Familial form
mental retardation. Will
(no age-associated risk) is
see epicanthal folds,
translocation t(21,x) in a minority
simian crease , brushfield
of cases.
spots in eyes. Associated syndromes: congenital
heart disease, leukemia, premature Alzheimer's disease (same morphological changes).
Edward's Syndrome
Chromosomal
Trisomy 18
Mental retardation, micrognathia, rocker-
(Trisomy 18)
bottom feet, congenital heart disease, flexion deformities of fingers. Death by 1 year old.
Patau's Syndrome
Chromosomal
Trisomy 13
Mental retardation, microphthalmia, cleft lip
(Trisomy 13)
and palate, polydactyly, rocker-bottom feet, congenital heart disease.
Similar to and more severe than Edward's Syndrome. Death by 1 year old.
Prader-Willi
Chromosomal
Syndrome
Deletion of part of short arm of
Mental retardation, short
chromosome 15, paternal copy .
stature, hypotonia,
An example of genomic
obesity and huge
imprinting.
appetite after infancy. Small hands and feet, hypogonadism.
Fragile-X Syndrome
Chromosomal
Sex chromosome
Progressively longer tandem
Second most common
repeats on the long arm of the X-
cause of mental
chromosome. The longer the
retardation next to Down
number of repeats, the worse the
Syndrome. Macro-
syndrome. Tandem repeats tend
orchidism (enlarged
to accumulate through
testes) in males.
generations.
Klinefelter's
Chromosomal
Syndrome (XXY)
Sex chromosome
Non-disjunction of the sex
Hypogonadism, tall
chromosome during Anaphase I of
stature, gynecomastia.
meiosis ------> Trisomy (47,XXY)
Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear.
Turner's Syndrome
Chromosomal
(XO)
Sex chromosome
Non-disjunction of the sex
Streak gonads, primary
chromosome during Anaphase I of
amenorrhea, webbed
meiosis ------> Monosomy (45,X)
neck, short stature,
coarctation of Aorta, infantile genitalia. No mental retardation. No Barr bodies visible on buccal smear.
XXX Syndrome
Chromosomal
Trisomy (47,XXX) and other
Usually phenotypically
multiple X-chromosome
normal. May see
Sex chromosome
abnormalities.
menstrual abnormalities or mild mental retardation in some cases.
Ehlers-Danlos
Connective
Various defects in collagen
Laxity of joints,
Syndrome
Tissue
synthesis.
hyperextensibility of skin,
disease
poor wound healing,
Type-I: Autosomal dominant, mildest form. Type-IV : autosomal dominant. Defect in reticular collagen (type-III) Type-VI : autosomalrecessive. Type-VII: Defect in collagen type I Type-IX : X-linked recessive
aneurysms.
Type-I: Diaphragmatic hernia. Common, normal lifeexpectancy. Type-IV : Ecchymoses, arterial rupture. Dangerous due to rupture aneurysms. Type-VI : Retinal detachment, corneal rupture
Osteogenesis
Connective
Defects in Collagen Type I
Multiple fractures after
Imperfecta
tissue disease
formation.
birth, blue sclerae, thin skin, progressive deafness in some types (due to abnormal middle ear ossicles).
Type-I is most common; Type-II is most severe; Type-IV is mildest form. Cori's Disease
(Glycogen Storage Disease Type III)
Glycogen
Autosomal Recessive. Debranching
Stunted growth,
Storage
enzyme deficiency (can only break
hepatomegaly,
Disease
down linear chains of glycogen,
hypoglycemia.
not at branch points) ------> accumulate glycogen in liver,
heart, skeletal muscle.
McArdle's Disease
(Glycogen Storage Disease Type V)
Pompe's Disease
(Glycogen Storage Disease Type II)
Glycogen
Autosomal Recessive. muscle
Muscle cramps, muscle
Storage
phosphorylase deficiency (cannot
weakness, easy
Disease
utilize glycogen in skeletal muscle)
fatigability.
------> accumulation of glycogen in
Myoglobinuria with
skeletal muscle.
strenuous exercise.
Glycogen
Autosomal Recessive. alpha-1,4-
Cardiomegaly,
Storage
Glucosidase deficiency (cannot
hepatomegaly, and
Disease
break down glycogen) ------>
systemic findings, leading
accumulate glycogen in liver,
to early death.
heart, skeletal muscle.
Von Gierke's Disease
(Glycogen Storage Disease Type I)
Glycogen
Autosomal Recessive. Glucose-6-
Severe fasting
Storage
Phosphatase deficiency (cannot
hypoglycemia,
Disease
break down glycogen) ------>
hepatomegaly from lots
accumulate glycogen in liver and
of glycogen in liver.
kidney.
Hemophilia A (Factor
Hemophilia
VIII Deficiency)
X-Linked Recessive. Factor VIII
Hemorrhage, hematuria,
deficiency
hemarthroses. Prolonged PTT.
Hemophilia B (Factor
Hemophilia
IX Deficiency)
X-Linked Recessive. Factor IX
Milder than Hemophilia
deficiency.
A. Hemorrhage, hematuria, hemarthroses. Prolonged PTT.
Von Willebrand Disease
Hemophilia
Autosomal dominant and recessive
Hemorrhage, similar to
varieties. Von Willebrand Factor
hemophilia.
deficiency ------> defect in initial formation of platelet plugs, and shorter half-life of Factor VIII in blood.
Type-I: Most mild. Type-II: Intermediate. Type-III: most severe, with recessive inheritance (complete absence).
Ataxia-Telangiectasia
Immune
Autosomal Recessive. Unknown.
Cerebellar ataxia,
deficiency
Numerous chromosomal breaks
telangiectasia (enlarged
and elevated AFP is found.
capillaries of face and
Symptomatic by age 2 years.
skin), B and T-Cell
Combined Deficiency
deficiencies, IgA deficiency.
Chédiak-Higashi
Immune
Defect in polymerization of
Recurrent pyogenic
Syndrome
deficiency
microtubules in neutrophils ------>
infections,
failure in neutrophil migration and
Staphylococcus,
phagocytosis. Also results in failure
Streptococcus.
Phagocyte Deficiency
in lysosomal function in neutrophils.
Chronic
Immune
X-Linked (usually) NADPH Oxidase
Failure of phagocytes
Granulomatous
deficiency
deficiency ------> no formation of
leads to susceptibility to
peroxides and superoxides ------>
infections, especially
no oxidative burst in phagocytes.
Staph Aureus and
Disease
Phagocyte Deficiency
Aspergillus spp. B and T cells usually remain normal.
Chronic
Immune
T-Cell deficiency specific to
Selective recurrent
Mucocutaneous
deficiency
Candida.
Candida infections. Treat
Candidiasis
with anti-fungal drugs.
T-Cell Deficiency Job's Syndrome
Immune
A failure to produce gamma-
High histamine levels,
deficiency
Interferon by T-Helper cells,
eosinophilia. Recurrent
leading to an increase in T H2 cells
cold (non-inflammatory)
(no negative feedback) ------>
Staphylococcal abscesses
excessively high levels of IgE.
(resulting from high
Phagocyte Deficiency
histamine), eczema.
Selective IgA
Immune
IgA deficiency may be due to a
The most common
Deficiency
deficiency
failure of heavy-chain gene
congenital immune
switching.
deficiency. There also
B-Cell Deficiency
exists selective IgM and IgG deficiencies, but they
are less common.
Severe Combined
Immune
Autosomal Recessive. Adenosine
Severe deficiency in both
Immunodeficiency
deficiency
Deaminase deficiency ------>
humoral and cellular
accumulation of dATP ------>
immunity, due to
inhibit ribonucleotide reductase ---
impaired DNA synthesis.
---> decrease in DNA precursors
Bone marrow transplant
(SCID)
Combined Deficiency
may be helpful in treatment.
Thymic Aplasia (DiGeorge Syndrome)
Immune
Failure of development of the 3
rd
th
T-Cell deficiency from no
and 4 Pharyngeal Pouches ------>
thymus. Hypocalcemic
agenesis of the thymus and
tetany from primary
T-Cell Deficiency
parathyroid glands.
parathyroid deficiency.
Wiskott-Aldrich
Immune
Inability to mount initial IgM
In infancy, recurrent
Syndrome
deficiency
response to the capsular
pyogenic infections,
polysaccharides of pyogenic
eczema,
bacteria.
thrombocytopenia,
deficiency
Combined Deficiency
excessive bleeding. IgG levels remain normal.
X-Linked
Immune
X-Linked. Mutation in gene coding
Recurrent pyogenic
Agammaglobulinemia
deficiency
for tyrosine kinase causes failure
infections after 6 months
of Pre-B cells to differentiate into
(when maternal
B-Cells.
antibodies wear off). Can
(Bruton's Disease)
B-Cell Deficiency
treat with polyspecific gamma globulin preparations.
Fabry's Disease
Lysosomal
X-Linked Recessive. alpha-
Angiokeratomas (skin
Storage
Galactosidase A deficiency ------>
lesions) over lower trunk,
Disease
buildup of ceramide trihexoside in
fever, severe burning
body tissues.
pain in extremities, cardiovascular and cerebrovascular involvement.
Gaucher's Disease
Lysosomal
Autosomal Recessive.
Storage
Glucocerebrosidase deficiency -----
Disease
-> accumulation of
glucocerebrosides (gangliosides, sphingolipids) in lysosomes throughout the body.
Type-I: Adult form. 80% of cases, retain partial activity. Hepatosplenome galy, erosion of femoral head, mild anemia. Normal lifespan with treatment. Type-II: Infantile form. Severe CNS involvement. Death before age 1. Type-III: Juvenile form. Onset in early childhood, involving both CNS and viscera, but less severe than Type II.
Niemann-Pick
Lysosomal
Autosomal Recessive.
Sphingomyelin-
Lipidosis
Storage
Sphingomyelinase deficiency ------
containing foamy
Disease
> accumulation of sphingomyelin
histiocytes in
in phagocytes.
reticuloendo-thelial system and spleen. Hepatosplenomegaly, anemia, fever, sometimes CNS deterioration. Death by age 3.
Hunter's Syndrome
Lysosomal
X-Linked Recessive. L-
Similar to but less severe
Storage
iduronosulfate sulfatase
than Hurler Syndrome.
Disease
deficiency ------> buildup of
Hepatosplenomegaly,
mucopolysaccharides (heparan
micrognathia, retinal
sulfate and dermatan sulfate)
degeneration, joint stiffness, mild retardation, cardiac lesions.
Hurler's Syndrome
Tay-Sachs Disease
Lysosomal
Autosomal Recessive. alpha-L-
Gargoyle-like facies,
Storage
iduronidase deficiency ------>
progressive mental
Disease
accumulation of
deterioration, stubby
mucopolysaccharides (heparan
fingers, death by age 10.
sulfate, dermatan sulfate) in heart,
Similar to Hunter's
brain, liver, other organs.
Syndrome.
Lysosomal
Autosomal Recessive.
CNS degeneration,
Storage
Hexosaminidase A deficiency ------
retardation, cherry red-
Disease
> accumulation of GM2 ganglioside
spot of macula, blindness
in neurons.
(amaurosis). Death before age 4.
Albinism
Nitrogen
Autosomal Recessive. Tyrosinase
Depigmentation, pink
Metabolism
deficiency ------> inability to
eyes, increased risk of
Defect
synthesize melanin from tyrosine.
skin cancer.
Can result from a lack of migration of neural crest cells.
Alkaptonuria
Nitrogen
Autosomal Recessive.
Urine turns dark and
Metabolism
Homogentisic Oxidase deficiency
black on standing,
Defect
(inability to metabolize Phe and
ochronosis (dark
Tyr) ------> buildup and urinary
pigmentation of fibrous
excretion of homogentisic acid .
and cartilage tissues), ochronotic arthritis, cardiac valve involvement. Disease is generally benign.
Homocystinuria
Nitrogen
Autosomal Recessive.
Mental retardation,
Metabolism
Cystathionine synthase defect
ectopia lentis, sparse
Defect
(either deficiency, or lost affinity
blond hair, genu valgum,
for pyridoxine, Vit. B 6) ------>
failure to thrive,
buildup of homocystine and
thromboembolic
deficiency of cysteine.
episodes, fatty changes of liver.
Treatment: Cysteine supplementation, give excess pyridoxine to
compensate for lost pyridoxine affinity. Lesch-Nyhan
Nitrogen
X-Linked Recessive. Hypoxanthine-
Hyperuricemia (gout),
Syndrome
Metabolism
Guanine
mental retardation, self-
Defect
Phosphoribosyltransferase
mutilation (autistic
(HGPRT) deficiency ------> no
behavior),
salvage pathway for purine re-
choreoathetosis,
synthesis ------> buildup of purine
spasticity.
metabolites
Maple Syrup Urine
Nitrogen
Autosomal Recessive. Deficiency of Severe CNS defects,
Disease
Metabolism
branched chain keto-acid
mental retardation,
Defect
decarboxylase ------> no
death. Person smells like
degradation of branched-chain
maple syrup or burnt
amino acids ------> buildup of
sugar. Treatment:
isoleucine, valine, leucine.
remove the amino acids from diet.
Phenylketonuria
Nitrogen
Autosomal Recessive.
Symptoms result from
(PKU)
Metabolism
Phenylalanine hydroxylase
accumulation of
Defect
deficiency (cannot break down Phe
phenylalanine itself.
nor make Tyr) ------> buildup of
Mental deterioration,
phenylalanine, phenyl ketones
hypopigmentation (blond
(phenylacetate, phenyl lactate,
hair and blue eyes),
phenylpyruvate) in body tissues
mousy body odor (from
and CNS.
phenylacetic acid in urine and sweat).
Treatment: remove phenylalanine from diet . Glucose-6-Phosphate
X-Linked Recessive. Glucose-6-
Susceptibility to oxidative
Dehydrogenase
Phosphate Dehydrogenase (G6PD)
damage to RBC's, leading
(G6PD) Deficiency
deficiency ------> no hexose
to hemolytic anemia .
monophosphate shunt ------>
Can be elicited by drugs
deficiency in NADPH ------>
(primaquine,
inability to maintain glutathione in
sulfonamides, aspirin),
reduced form, in RBC's
fava beans (favism ).
RBC Disease
More prevalent in blacks.
Glycolytic enzyme
RBC Disease
deficiencies
Autosomal Recessive. Defect in
Hemolytic anemia results
hexokinase, glucose-phosphate
from any defect in the
isomerase, aldolase, triose-
glycolysis pathway, as
phosphate isomerase, phosphate-
RBC's depend on
glycerate kinase, or enolase. Any
glycolysis for energy.
enzyme in glycolysis pathway.
Autosomal Recessive
Renal
Autosomal Recessive.
Numerous, diffuse
Polycystic Kidney
bilateral cysts formed in
Disease (ARPKD)
the collecting ducts. Associated with hepatic fibrosis.
Bartter's Syndrome
Renal
Juxtaglomerular Cell Hyperplasia,
Elevated renin and
leading to primary hyper-
aldosterone,
reninemia.
hypokalemic alkalosis. No hypertension.
Fanconi's Syndrome
Renal
Type I
Autosomal Recessive. Deficient
(1) Cystine deposition
resorption in proximal tubules.
throughout body, cystinuria. (2) Defective
(Child-onset cystinosis)
tubular resorption leads to amino-aciduria, polyuria, glycosuria, chronic acidosis;
Hypophosphatemia and Vitamin-D-resistant Rickets.
Fanconi's Syndrome II
Renal
Autosomal Recessive. Defective
Similar to Fanconi
resorption in proximal tubules.
Syndrome Type I, but
(Adult-onset)
without the cystinosis. Adult onset
osteomalacia, aminoaciduria, polyuria, glycosuria.
Autosomal Dominant Polycystic Kidney
Renal
Autosomal Dominant.
Numerous, disparate, heterogenous renal cysts
Disease (ADPKD)
Autosomal Dominant Disorders
occurring bilaterally. Onset in adult life. Associated with liver cysts.
