Friday, June 17, 2011

AUTOSOMAL DOMINANT DISEASES




ACHONDRODISPLASIA
Defect of FGFR 3
Dwarfism, associated with advanced paternal age
APKD(adult polycystic kidney disease)
90% due to mutation in APKD 1 (chromosome 16)
Always bilateral, massive enlargement of kidneys due multiples cysts.
Associated with polycystic liver disease, berry aneurysm, mitral valve prolapse.
Familial adenomatous polyposis
Deletion on chromosome 5
(APC gene)
Colon becomes---adenomatous polyps after puberty.
Hyperlipidemia type II
Due by a defective or absent LDL receptor
Severe atherosclerotic disease, xanthomas(Achilles tendon), MI <20
Osler-Weber-Rendau syndrome
Disorder of blood vessels.
Gene endoglin (ENG) or ALK-1
Telangiectasia, epistaxix, skin discoloration, AVMs
Hereditary Spherocytosis
Due Spectrin or Ankyrin defect
Spheroid erythrocytes, hemolytic anemia, high MCHM.
Splenectomy is curative
Huntington’s disease
Gene on chromosome 4
Trinucleotide repeat disorder CAG
Dementia, depression, choreifrom movements, manifest---20-50 yrs old.
Marfan’s  syndrome
Fibrillin gene mutation (FBN 1 gene) on chromosome 15
Toll w/ long extremities
Pectus excatum, hyperextension joins, arachnodactyly, berry aneurysm, subluxation of lenses
MEN (1-2A-2B)
MEN 1 – 11q13
MEN 2A-2B—ret gene
Familial endocrine glands(pancreas-parathyroid-pituitary-thyroid-adrenal medulla)
von Recklinghauses disease (NF type 1)
Chromosome 17
Café-au-lait spot, neural tumor, Lisch nodules.
NF type 2
Chromosome 22
Bilateral acoustic neuroma
Juvenile cataracts

Tuberous sclerosis
Incomplete Penetrance, variable expression.
Mutation on TSC 1-TSC 2 genes
Facial lesion (adenoma sebaceum), “ash leaf spot”, seizure, MR, renal cyst, cardiac rhabdomyomas.
von Hippel-Lindau disease
Deletion of VHL gene (tumor suppressor) on chromosome 3
Hemangioblastoma on retina/cerebellum/medulla.
50% develop bilateral cell carcinomas/ other tumor










 

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