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33 Cards in this Set
- Front
- Back
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Hypophospatemic rickets
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- Xlinked dominant
- high phosphate wasting at proximal tubule - rickets like presentation |
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Mitochondrial myopathies
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- get mito from mom
- variable expression due to heteroplasmy - myopathy - CNS disease - ragged red fibers |
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Achondroplasia
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- AD
- fibroblast growth factor - cell signaling defect of receptor 3 - dwarfism |
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Polycystic Kidney disease - adult
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- AD
- flank pain - hematuraia - HTN - Progressive renal failure - PKD1 XX(16) - ass/ w/ polycystic liver, berry aneurysm, mitral valve prolapse |
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Familial adenomatous polypopsis
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- AD
- XX(5) - APC gene - colon covered in adenomatous polyps - progresses to colon cancer |
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Familial hypercholesterolemia
(hyperlipidemia type II A) |
- AD
- Defective LDL receptor = high LDL - Het LDL 300; Homo LDL 700+ - severe atherosclerosis - tendon xanthoma - MI before 20 |
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Osler Weber Rendu syndrome
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- AD
- Hereditary hemorrhagic telangiectasia (blood vessel d/o) - telangictasia - epistaxis - skin discolorations - Arteriovenous malformation (AVM) |
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Hereiditary spereocytosisi
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- AD
- spectrin or ankyrin defect - hemolytic anemia - high MCHC - cure with splenectomy |
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Huntington's disease
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- AD
- depression, progressive dementia, choreiform - cuadate atropphy - low GABA and Ach - XX 4, CAG repeat - anticipation |
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Marfan's
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- AD
- Fibrillin 1 mutation - CT d/o affecting skeleton, heart and eyes - Tall, long fingers, pectus excavatum - hypermobile joints, cystic medial necrosis of aorta - idssecting aortic aneurysm - floppy mitral valve - Subluxation of lenses |
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Multiple Endocrine Neoplasia
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- AD
- familial tumors of endocrine gland - 2A and 2B ass/w/ ret gene |
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von Recklinghausen's disease
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- AD - XX17
- Neurofibromatosis I - cafe au lait spots - neural tumors - Lisch nodules = pigments in iris - skeletal d/o - scoliosis - optic glioma |
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Neurofibromatosis type II
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- AD
- XX 22 - NF2 gene - bilateral acoustic schwannoma - juvenile cataracts |
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Tuberous sclerosis
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- AD
- adenoma sebaceum (facial lesion) - ash leaf spots - hypopigmentation - cortical and retinal hamartomas - Seixures - Mental retardation - Renal cyts and angiomyolipomas - CARDIAC RHABDOMYOMA - astrocytoma - INCOMPLETE PENETRANCE/ VARIABLE PRESENTATION |
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von Hibble Lindau
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- AD, XX 3, VHL gene (delete tumor suppressor)
- hemangioblastomas of retina, cerebellum, medulla - bilateral RCC - constitutive expression of HIF transcription factor - activation of angiogenic growth factors |
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Auto Recessive Diseases
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Albinism
ARPKD CF Glycogen storage diseases Hemocromatosis Mucopolysaccharidoses - except Hunters PKU Sickle Cell Sphingolipidoses - except Fabrys Thalassemias |
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CF
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- CTFR gene on XX 7
- deletion of Phe on 508 - recurrent pesudomona and S. aureus in pulm - chronic bronchitis, bronciectaissi - pancratic insufficiency - malabsorption - steathorrhea - nasal polyps - MECONIUM ILEUS - tx: N-acetylcysteine - loosen muscous plugs |
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CFTR function:
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actively secretes Cl- in lungs and GI
actively resorbs Cl- form sweat |
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X-link recessive disorders
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Be Wise Fool's GOLD Heeds Silly HOpe
- Broton's agammaglobulinemia - Wiskott Aldrich syndrome - Fabry's - G6PD - Ocular albinism - Lesch Nyhan syndrome - Duchenne's and Becker's muscular dystrophy - Hunter's Syndrome - Hemophilia A/B - Ornithine transcarbamoylase def |
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Duchenne's Muscular Dystrophy
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- Xlinked fameshift
- deletion dystrophin (DMD gene) - begins in pelvic girdle - pseudohypertrophy - Grower's maneuver - dx: high CPK and muscle biopsy |
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Becker's Disease
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- less severe muscular dystrophy
- X linked mutated dystrophin - dx: high CPK and muscle biopsy |
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Fragile X syndrome
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- X linked defect affecting the methylation and expression of the FMR1 gene
- mental retardation - macroorchidism - big balls - log face, large jaw, everted ears - mitral valve prolapse - CGG repeat |
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CGG repeat
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Fragile X
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GAA repeat
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Friedreich's ataxia
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CAG repeat
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Huntington's
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CTG repeat
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Myotonic dystrophy
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Down's
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Trisomy 21
- gap b/w 1st and 2nd toe - simian crease - duodenal atresia - ostium primum type ASD - inc ALL - Alzheimer's = Low AFP, high BHCG, low estriol, high inhibin A = high nuchal translucency |
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Edward's
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Trisomy 18
- rocker bottom feet and MR - small jaw - low ears - prominent occiput = low AFP, low BHCG, low estriol, normal inhibin A |
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Patau's
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Trisomy 13
- rocker bottom feet and MR - small eyes, small head - cleft lip/ palate - holoprosencephaly - polydactyly - low free BhCG, low PAPP-A, high nuchal translucency |
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Robertsonian translocation
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XX - 13, 14, 15, 21, 22
nonreciprocal chromosomal translocation |
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Cri du chat syndrome
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- congenital microdeletion of short arm of XX 5
- microcephaly - MR - high pitched crying - epicanthal folds - VSK |
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Williams syndrome
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- congenital microdeletion of long arm of XX 7
- (deleted region includes elastin gene) - distinctive elfin faceis - hypercalcemia d2 high sensitivity to Vit D - well developed verbal; super friendly |
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22q11 deletion
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CATCH-22
Cleft palate Abnormal facies Thymic aplasia (Tcell def) Cardiac defect Hypocalcemia 2* to parathyroid aplasia 22 microdeletion - DiGeorge's - thymic, parathyroid and cardiac defect - Velocardiofacial syndrome -palate, facial and cardiac defect |
