Читать книгу Primary Care for COMLEX Level 1 - Dr. Jahan Eftekar - Страница 30
27. AUTOSOMAL DOMINANT CONDITIONS
ОглавлениеKeyboard Associations
Condition ⇔ Attributes
•Adult-polycystic kidney disease ⇔ Renal cyst, Liver, Berry aneurysm, Mitral
•Familial hypercholesterolemia ⇔ Myocardial infarction, LDL receptors
•Huntington’s ⇔ Progressive dementia, Chromosome 4, low GABA
•Hereditary Hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome) ⇔ Skin telangiectasia, convoluted venules
•Familial Polyposis coli ⇔ APC gene, chromosome 5, Colonal cancer
•Von Hippel-Lindau ⇔ Hemangioblastoma, Chromosome 3, Renal tumors
•Von Recklinghausen’s (Neurofibromatosis) ⇔ Café au lait spots, neural tumors, Chromosome 17
•Marfan’s ⇔ Fibrillin, floppy mitral, lens subluxation, tall stature
•Hereditary Spherocytosis ⇔ hemolytic anemia
•Thorotrast ⇔ Hepatic angiosarcoma
•Retinoblastoma ⇔ Risk of osteosarcoma and breast carcinoma
•Ehlers Danlos Syndrome ⇔ Collagen and elastin defect, elastic skin, easy bleeding
•Von Willebrand ⇔ Bleeding