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45 Cards in this Set
- Front
- Back
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ADPKD:
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-ALWAYS bilateral
-Massive enlargement of kidneys due to multiple large cysts |
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4 presenting signs of ADPKD:
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PAIN
HEMATURIA HYPERTENSION PROGRESSIVE KIDNEY FAILURE |
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Genetic association in 90% of ADPKD:
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Mutation of ADPKD1 on Ch 16
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3 associations with ADPKD:
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-Mitral valve prolapse
-Berry aneurysms -Liver polycystic disease |
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What is the juvenile form of ADPKD?
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Recessive - NOT auto dom
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Familial hypercholesterolemia is aka:
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Hyperlipidemia type IIa
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What IS Familial hypercholesterolemia?
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Elevated LDL due to low or lack of LDL receptor
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Cholesterol level in patients w/
HETEROZYGOUS FH HOMOZYGOUS FH |
Hetero 300 mg/dl
Homo 700 mg/dl |
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Which form is more common?
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Heterozygous
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Which form is more severe?
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Homo - Severe atherosclerotic disease early in life
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Classic symptom of Homozygous FH:
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Tendon Xanthoma in the Achille's tendon
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So if you see a Myocardial infarct in a 20 yr old due to hypercholesterolemia, think:
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Autosomal Dominant Homozygous Familial hypercholesterolemia
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Marfan's syndrome:
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Fibrillin gene mutation leading to CT disorders
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3 CT disorders in Marfan's
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-Skeletal abnormalities
-Cardiovascular abnormalities -Ocular abnormalities |
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What skeletal abnormalities are seen in Marfan's?
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-Very tall - arachnodactyly
-Pectus excavatum -Hyperextensive joints -Spindly fingers/toes |
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What are the cardiovasc abnormalities in Marfan's?
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-Floppy mitral valve
-Aortic insufficiency -Aortic dissection |
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What causes the aortic problems in Marfan's?
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Cystic Medial Necrosis of the Aorta
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Ocular abnormality in Marfan's:
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Lens subluxation (dislocation)
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Neurofibromatosis Type I is aka
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Von recklinghausen's disease
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Gene mutation in NF type I:
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17 letters! Ch' 17 long arm
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3 classic FINDINGS In NF1
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-Cafe au lait spots
-Neural tumors -Lisch nodules |
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What are lisch nodules?
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Pigmented hamartomas on the iris
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4 classic associations in Neurofibromatosis type I:
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-PHEOchromocytoma
-SKELETAL disorders - scoliosis -OPTIC gliomas -Increased TUMOR susceptibility |
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What is the Gene mutation in NF type II?
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Ch' 22 NF2 gene
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What are the 2 hallmark findings in NF 2?
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-2 bilateral acoustic schwannomas
-Juvenile Cataracts |
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Ash leaf spots think:
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Tuberous sclerosis
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What is classically seen in Tuberous sclerosis?
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-Face lesions - Adenoma Sebaceum
-Hypopigmented spots (Ash leaf) -Cortex/Retinal HAMARTOMAS -Seizures/Mental retardation -Renal cysts -Cardiac Rhabdomyomas |
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What is the penetrance/presentation of Tuberous sclerosis like?
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-Incomplete penetrance
-Variable presentation |
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What is incomplete penetrance again?
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Not all individuals with the mutant genotype show the mutant phenotype
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What are the CLASSIC findings in Von Hippel-Lindau syndrome?
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Hemangioblastomas of the
-Retina -Cerebellum -Medulla |
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What do half of patients with Von hippel lindau get?
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Bilateral renal cell carcinoma in multiples
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What gene is the VHL gene on? What is the VHL protein function?
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Ch' 3p (VHL - 3 words)
Tumor suppressor gene |
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3 clinical symptoms of Huntington's disease:
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-Depression
-Progressive dementia -Choreiform movements |
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What is the pathology that causes Huntington's disease?
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Caudate nucleus ATROPHY with DECREASED LEVELS of ACh and GABA
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When do the symptoms of Huntington's disease become apparent?
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Between ages 20-50
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What is the gene disorder in Huntington's disease?
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Triple nucleotide repeats - CAG on Chromosome 4
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How do you remember the Ch' # for Huntington's?
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Hunting 4 food
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What is the chromosome defect in FAP?
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Deletion on Ch' 5 - polyp is 5 letters
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When is the onset of FAP? What happens?
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After puberty the colon becomes carpeted with adenomatous polyps
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What is the prognosis of Familial adenomatous polyposis?
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It WILL become cancer if not resected.
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What are the findings in Hereditary Spherocytosis?
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-Spheroid erythrocytes
-Hemolytic anemia -Increased MCHC |
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What is the treatment for Hered spherocytosis?
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Splenectomy is curative
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What is Achondroplasia?
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Cell-signalling defect of FGF receptor 3
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Classic findings in Achondroplasia:
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-Short limbs
-Normal head/trunk DWARFISM! |
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What is Achondroplasia associated with?
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Advanced Paternal Age
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