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25 Cards in this Set
- Front
- Back
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Adult polycystic kidney disease
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AD!!!
always bilateral patients present with pain, hematuria, hypertension, progressive renal failure 90% are due to a mutation in APKD1 (chromosome 16) associated with polycystic liver disease, BERRY ANEURYSMS, mitral valve prolapse Juvenile form is recessive |
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Familial hypercholesterolemia
(hyperlipidemia type IIA) |
elevated LDL owing to defective or absent LDL receptors
heterozygotes (1:500) have cholesterol around 300 mg/dL homozygotes (rare) have cholesterol around +700 mg/dL, severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20 |
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Marfan's syndrome
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AD!!!
fibrillin gene mutation which leads to CT disorders Skeletal abnormalities: tall with long extremities, pectus excavatum, hyperextensive joints, and long, tapering fingers and toes (arachnodactyly) Cardiovascular: cystic medial necrosis of aora --> aortic incompetence and dissecting aortic aneurysms; floppy mitral valve Ocular: subluxation of lenses |
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Neurofibromatosis type 1
(von Recklinghausen's disease) |
Findings: cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas)
Marked by skeletal disorders, like scoliosis, optic pathway gliomas, pheochromocytoma and increased tumor susceptibility on long arm of chromosome 17 |
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Neurofibromatosis type 2
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AD!!!
bilateral acoustic neuromas, juvenile cataracts NF2 gene on chromosome 22 (type 2 = 22) |
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Tuberous sclerosis
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AD!!!
Facial lesions (adenoma sebaceum), hypopigmented 'ash leaf spots' on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas increased incidence of astrocytomas incomplete penetration with variable presentation |
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von Hippel-Lindau disease
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AD!!!
hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors associated with deletion of VHL gene (tumor suppressor gene) on chromosome 3 (3p) remember: von hippel-lindau = 3 words for chromosome 3 tumors in areas with great blood supply |
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Huntington's disease
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AD!!!!
Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain comes about around ages 20-50 located on gene 4 |
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Familial adenomatous polyposis
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AD!!!
colon becomes covered with adenomatous polyps after puberty progresses to colon cancer unless resected deletion on chromosome 5 (APC gene) |
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Hereditary spherocytosis
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AD!!!
spheroid erythrocytes hemolytic anemia increased MCHC splenectomy is curative |
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Achondroplasia
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AD!!!
cell signaling defect of fibroblast growth factor (FGF) receptor 3 dwarfism, short limbs, but head and trunk are normal size associated with advanced paternal age |
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cystic fibrosis, albinism (think locus heterogeneity), PKU, thalassemias, sickle cell anemias, glycogen storage diseases, mucopolysaccharidoses, sphingolipidoses (except Fabry's), infant polycystic kidney disease and hemochromatosis
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AR!!!
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Cystic fibrosis!!
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AR defect in CFTR gene on chromosome 7 (commonly deletion of Phe 508)
CFTR channel actively secretes Cl- in lungs and GI tract and actively resorbs Cl from sweat Defective Cl- channel causes a secretion of abnormally thick mucus that plugs lungs, pancreas and liver which causes recurrent pulmonary infections (Pseudomonas and Staph aureus), chronic bronchitis, bronchiectasis and pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns increase concentration of Cl- ions in sweat test is diagnostic |
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Cystic fibrosis with regards to male stuff...
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infertiliby because of bilateral absence of vas deferens
also has fat soluble vitamin deficiencies (A, D, E and K) and thus can present as failure to thrive in infancy |
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Treatment of cystic fibrosis
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N-acetylcysteine to loosen mucous plugs
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X-linked recessive disorders
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Brutons agammaglobulinemia, Wiskott-Aldrich, Fragile X, G6PD deficiency, ocular albinism, Lesch-Nyhan syndrome, Duchenee's muscular dystrophy, Hemophilia A and B, Fabry's disease and Hunter's syndrome
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Duchenee's Muscular Dystrophy
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X-linked recessive!
Frame shift-mutation; deletion of dystrophin gene (Duchennes is deleted dystrophin) onset before 5 years old weakness begins in the pelvic girdle muscles and progresses superiorly PSEUDOHYPERTROPHY OF CALF MUSCLES due to fibrofatty replacement of muscles; cardiac myopathy Use of Gower's maneuver, requiring assistance of the upper extremities to stand up (proximal lower limb weakness) |
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Becker's Muscular Dystrophy
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mutated dystrophin gene is less severe than Duchenne's
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Fragile X Syndrome
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X-linked recessive!!
defect affecting the methylation and expression of the FMR1 gene; associated with chromosomal breakage 2nd most common cause of genetic mental retardation (1st is Down Syndrome) associated with macro-orchidism (enlarged testes), long face with a large jaw, large everted ears and autism TRIPLE REPEAT DISORDER (CGG) that may show genetic anticipation (germline expansion in females) |
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Trinucleotide repeat expansion diseases
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huntingtons, myotonic dystrophy, Friedreich's ataxia, fragile X syndrome
May show anticipation (disease severity increases and age of onset decreases in successive generations) |
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Down syndrome
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Trisomy 21
1:700 (most common chromosomal disorder) 95% meiotic nondisjunction 4% Robertsonian translocation 1% mosaicism (nonmaternal) Prenatal screening: increase alpha-fetoprotein, decrease beta-hCG and increase nuchal translucency Related diseases: ALL, Alzheimer's Head: flat facial profile, prominent epicanthal folds Heart: primum-type ASD due to endocardial cushion defects Hands: simian crease Feet: gap between first 2 toes |
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Edward's syndrome
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Trisomy 18
1:8000 life expectancy is less than 1 year old Head: prominent occiput, micrognathia (small jaw), low-set ears Hands: clenched hands Feet: rocker-bottom feet |
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Patau's syndrome
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Trisomy 13
1:15,000 life expectancy is less than one year severe mental retardation Head: microphthalmia (small eyes), microcephaly, cleft lip/palate Hands: polydactyly Feet: rocker-bottom feet |
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Cri-du-chat
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congenital deletion of short arm of chromosome 5
Findings: microcephaly, severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities |
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22q11 syndromes
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CATCH-22!!
cleft palate, abnormal facies, thymic aplasia (T cell deficiency), cardiac defects, hypocalcemia (secondary to parathyroid aplasia, microdeletion at 22q11) Variable presentation as DiGeorge syndrome (thymic, parathyroid and cardiac defects) or velocardiofacial syndrome (palate, facial and cardiac defects) |
