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56 Cards in this Set

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  • Back
What is the genetic defect in cystic fibrosis?
Autosomal-recessive defect in CFTR gene on chromosome 7
What is the molecular defect in CF?
Defective Cl- channel
What are the consequences of the defect in CF?
The defective chloride channel causes secretion of abnormally thick mucus that plugs lungs, pancreas and liver, which leads to recurrent pulmonary infections (pseudomonas species and S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns.
Name a diagnostic test for CF.
Increased concentration of Cl- ions in sweat test.
Why does CF cause infertility in males?
Absent vas deferens.
What vitamins are often deficient in CF?
Fat-soluble - A,D,E,K
Name an epidemiologic characteristic of CF.
Most common lethal genetic disease of Caucasians.
What is the treatment for CF?
N-acetylcysteine to loosen mucous plugs.
A patient presents with flank pain, hematuria, hypertension, progressive renal failure and has a mutation in one of his copies of APKD1 (chromosome 16); what is the diagnosis?
Adult polycystic kidney disease. N.B. the juvenile form is recessive.
Name 2 other characteristics of adult polycystic kidney disease.
(1) always bilateral, (2) massive enlargement of the kidneys due to multiple large cysts.
What sequelae are associated with adult polycystic kidney disease?
(1) polycystic liver disease (2) berry aneurysms (3) mitral valve prolapse
What disease involves elevated LDL owing to defective or absent LDL receptor?
Familial hypercholesterolemia (type IIA)
What are the average cholesterol levels in heterozygotes and homozygotes with familial hypercholesterolemia (tyype IIA)?
heterozygotes (1:500) - 300 mg/dL homozygotes - 700+ mg/dL
What are 3 sequelae of familial hypercholesterolemia (type IIA)?
(1) severe atherosclerotic disease early in life (2) tendon xanthomas (classically in the Achilles tendon) (3) MI may develop before age 20
What is the genetic defect in Marfan's syndrome?
Fibrillin gene mutation leads to connective tissue disorders.
What are the skeletal abnormalities in Marfan's?
tall with long exteremities, hyperextensive joints, and long, tapering fingers and toes.
What are the cardiovascular risks in Marfan's?
cystic medial necrosis of aorta leads to aortic incompetence and dissecting aortic aneurysms; floppy mitral valve.
What are the ocular risks in Marfan's?
Subluxation of lenses.
What is another name for Neurofibromatosis type 1?
von Recklinghausen's disease
What chromosome is affected in NF type 1?
Long arm of chromosome 17 (17 letters in von Recklinghasen's)
What are 5 classic characteristics of people with NF type 1?
(1) café-au-lait spots (2) neural tumors (3) Lisch nodules (pigmented iris hamartomas) (4) skeletal disorders (e.g., scoliosis) (5) Increased tumor susceptibility
What disease is associated with bilateral acoustic neuroma?
Neurofibromatosis type 2
What gene is affected in neurofibromatosis type 2?
NF2 gene on chromosome 22; (type 2 = 22)
What is the genetic mutation in Von-Hippel-Lindau disease?
Deletion of VHL gene (tumor suppressor) on chromosome 3p. (Von Hippel-Lindau = 3 words for chromosome 3)
What are the clinical findings in Von-Hippel-Lindau disease?
hemiangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors.
What is the diagnosis in a 20-50 year old person who presents with depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and Ach in the brain?
Huntington's disease
What chromosome holds the gene involved in that disease?
Chromosome 4; triplet repeat disorder ("Hunting 4 food")
What disease is responsible for a colon that ecomes covered with adenomatous polyps after puberty?
Familial adenomatous polyposis (FAP)
What is the progression in that disease if colon not resected?
Colon cancer
What is the genetic defect in this disease?
deletion on chromosome 5 - 5 letters in polyp
What are 3 characteristics of hereditary spherocytosis?
(1) spheroid erythrocytes (2) hemolytic anemia (3) increased MCHC
What is the cure for hereditary spherocytosis?
What is the genetic defect in achondroplasia?
Autosomal dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3.
What are the physical characteristics of achondroplasia?
Dwarfism, short limbs, but head and trunk are normal size.
Cystic fibrosis, AR or X linked?
albinism, AR or X linked?
Fragile X, AR or X linked?
Duchenne's muscular dystrophy, AR or X linked?
hemophilia A and B, AR or X linked?
a1-antitrypsin deficiency, AR or X linked?
Fabry's, AR or X linked?
G6PD deficiency, AR or X linked?
Hunter's syndrome, AR or X linked?
Phenylketonuria (PKU), AR or X linked?
thalassemias, AR or X linked?
sickle cell anemias, AR or X linked?
ocular albinism, AR or X linked?
glycogen storage diseases, AR or X linked?
mucopolysaccharidoses (except Hunter's), AR or X linked?
sphingolipidoses (except Fabry's), AR or X linked?
infant polycystic kidney, AR or X linked?
Lesch-Nyhan syndrome, AR or X linked?
Bruton's agammaglobulinemia, AR or X linked?
hemochromatosis, AR or X linked?
Wiskott-Aldrich syndrome, AR or X linked?
What are femal carriers of x-linked recessive disorders rarely affected?
Inactivation of X chromosomes in each cell