| |
APKD | always bilateral, present with pain, hematuria, HTN, progressive renal failure. APKD1 gene mutation. Asst'd with polycystic liver disease, BERRY ANEURYSMS, miltral valve prolapse, recessive juvenille form |
Neurofibromatosis type I | cafe-au-lait-spots, neural tumors, lisch nodules (pigmented iris hamartomas) skeletal disorders like scoliosis, pheo, and tumors. chrom 17 mutation aka con Recklinghausen's disease |
Neurofibromatosis type II | bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts. NF2 gene on chrom 22. type 2=22. risk of astrocytoma |
Tuberous Sclerosis | facial lesions (adenoma sebaceum), ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. incomplete penetrace. |
Von Hippel-Lindau | hemangioblastomas of retina/cerebellum/medulla; half develop bilateral renal cell carcinoma. VHL gene tumor suppresor on chrom 3 (3 words in VHL) |
achondroplasia | autosomal dominant, results in dwarf: short limbs, head and trunk normal, defect of FGF cell signaling |
hereditory sperocytosis | spheroid erythrocytes; hemolytic anemia; increased MCHC, cured by splenectomy |
FAPolyposis | colon covered with adenomatous polyps after puberty. Deletion on chrom 5, 5 letters in polyp |
huntington's | depression, demetia, choreiform movements, caudate atrophy and low GABA and ACh elvels. b/w 20 and 50. triplet repeat disorder. hunting 4 food. chrom 4. |
Cystic Fibrosis | auto recessive, CFTR gene on chrom 7. Pseudomonas and S. Aureus infections, males no vas deferens. Tx N acetylcysteine to loosen mucous plugs. most common lethal genetic disease in caucasians |
Trinucleotide Repeat Expansion diseases | Huntington's, myotonic dystrophy, Friedreich's ataxia, fragile X syndrome. can show anticipation |
Edward's Sydrome, Trisomy 18 | severe mental retardation, rocker bottom feet, micrognathia and low set ears, congenital heart disease, clenched hands. death by age 1 |
Patau's Syndrome, Trisomy 13 | severe retardation, microphthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease, death by one year |
Down's Syndrome | 95% due to meiotic nondisjunction of homologous chromosomes. low levels of alpha fetoprotein, high B-hCG, high nuchal translucency. septum primum, ASD due to endocardial cushion defect, duodenal atresia, prominent epicanthal folds, simian crease |
Cri-du-Chat | Congenital deletion of short arm of chrom 5. 46, XX or XY 5p- . microcephaly, severe retardation, high pitched cry, epicanthal folds, cardiac abnormalities |
Bruton's agammaglobulinemia | x linked recessive, tyrosine kinase defect, low levels of all immunoglobulins. Recurrent bacterial infections post six months of age when maternal IgG's decline. BOYS (xlinked) and BACTERIAL infection |
Thymic Aplasia (DiGeorge) | 3rd and 4th pharyngeal pouch deficit, Thymus and parathyroid don't develop. tetany from hypocalcemia, viral and fungal infections from low T cells. Congenital defects of heart and great vessels. 22q11 deletion |
SCID, B and T cell | defect in stem cell differentiation, viral bacterial fungal and protozoal infections. many causes. (ex. no MHCII, bad IL-2 receptor) |
IL-12 receptor deficiency on T cells | disseminated mycobacterial infections |
hyper IgM syndrome | Defect in CD40 ligand on CD4 T helper cells, inability to class switch. severe pyogenic infections. high IgM, low everything else |
Wiscott-Aldrich Syndrome | X linked, can't mount IgM response to capsular bacteria (esp strep pneumo). WIPE: wiscott, pyogenic Infections, purpura, eczema. 12% get non hodgkin's lymphoma |
Job's syndrome | low macrophage activation, failure of gamma interferon production by T helper cells. neutrophils don't respond with chemotaxis. recurrent noninflamed staph abcesses, eczema, coarse facies, retained primary teeth, and high IgE |
Leukocyte adhesion deficiency | defect in LFA-1 adhesion proteins on phagocytes. early presentation with delayed separation of umbilicus |
Chediak-Higashi disease | auto recessive. defect in microtubular function and lysosomal emptying of phagocytic cells. staph and strep infections, partial albinism, peripheral neuropathy |
chronic granulomatous disease | Phagocytosis not working, neuts lack NADPH oxidase. diagnose with negative nitroblue tetrazolium dye reduction test |
ataxia telangiectasia | DNA repair enzyme deficiency asst'd with IgA deficiency. cerebellar probs (ataxia) and spider angiomas (telangiectasia). x-ray repain dysfunction |