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44 Cards in this Set
- Front
- Back
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Achondroplasia has a defect in what gene?
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FGFR3 (fibroblast growth factor receptor 3)
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What growth abnormalities are present in somebody with achondroplasia?
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Dwarfism with short limbs, but normal head and trunk size.
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What is associated with achondroplasia?
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Advanced paternal age
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What inheritance pattern describes achondroplasia?
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autosomal dominant
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Describe the pathology found in somebody with Autosomal-dominant polycystic kidney disease (ADPKD)
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ALWAYS bilateral massive enlargement of kidneys due to multiple large cysts.
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What symptoms would a patient with ADPKD present with?
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flank pain, hematuria, hypertension, progressive renal failure.
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What gene is defective in ADPKD?
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90% of the time it is APDK1 found on chromosome 16 ('polycystic kidney has 16 letters if that helps.
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What other disorders is ADPKD assocaited with?
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liver disease, BERRY ANEURYSMS, mitral valve prolapse.
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ADPKD was once referred to as adult polycystic kidney disease. In terms of the genetics, the childhood version is....
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recessive.
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When does a person with FAP (family adenomatous polyposis) start to display their disease?
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After puberty; by then the colon will begin to be covered with polyps.
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What form of inheritance does FAP show?
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autosomal dominant.
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How can you prevent colon cancer in somebody with FAP?
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You have to resect their colon.
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What genetic anomaly causes FAP?
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Deletion of APC gene on chromosome 5
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What lipid panels would you expect to see in somebody with Familial hypercholesterolemia (AKA hyperlipidemia type IIA)?
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Elevated LDL
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Why is LDL raised in somebody with familial hypercholesterolemia?
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the LDL receptor is defective or absent.
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Describe the genetic inheritance of familial hypercholeterolemia.
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The disease is autosomal dominant but homozygotes are much worse off. Their LDL is often in excess of 700mg/dL and have sever atheroscletotic disease early in life and tendon xanthomas (most often the achiles tendon)
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Would it be unusual for a homozygote with a deletion of the APC gene (on chromosome 5) to have an MI before the age of 20?
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No, they have familial hypercholesterolemia with sever athersclerotic disease because they are homozygotes.
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What is another name for hereditary hemorrhagic telangiectasia?
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(Osler-Weber-Rendu syndrome)
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What organ does hereditary hemorrhagic telangiectasia affect?
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blood vessels
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What findings would you expect in somebody with hereditary hemorrhagic telangiectasia?
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telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs)
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What inheritance pattern does hereditary hemorrhagic telangiectasia follow?
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Autosomal dominant
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What molecules are defective in hereditary spheryocytosis?
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spectrin or ankyrin
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The defects in RBCs causes by hereditary spherocytosis causes...... which leads to........
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hemolytic anemia; increased MCHC
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Which hematologic lab value would be different in somebody with hereditary spherocytosis?
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increased MCHC (mean corpuscular hemoglobin concentration)
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What is the definitive treatment for somebody with hereditary spherocytosis?
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splenectomy
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What genetic defect causes HUntington's disease?
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CAG trinucleotide repeat expansion in a gene on chromosme 4
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What findings would you expect to see in somebody with Huntington's?
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depression, progressive dementia, choreiform movements.
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What findings would be present on autopsy in a person with Huntington's?
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caudate atrophy, decreased GABA and ACh in brain.
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When does Huntington's manifest clinically?
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between 20 and 50
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What is the gene and inheritance pattern behind MArfan's syndrome?
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Fibrillin; autosomal dominant
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What organs are affected with a fibrillin mutation?
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skeleton, heart, and eyes.
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What findings would you find in somebody with MArfan's?
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tall with long extremities, pectus excavatum, hyperextensive joints, long, tapering fingers and toes (arachnodactyly), subluxation of lenses.
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What vascular problem is caused by Marfan's?
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cystic medial necrosis of aorta which causes aortic incompetence and dissecting aortic aneurysyms. Also, a floppy mitral valve.
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MEN 2A and 2B are associated with what gene?
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RET
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Neurofibromatosis type 1 has what findings on PE?
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cade-au-lait spots, neural tumors, lisch nodules (pigmented iris hamertomas). Skeletal disorders (Scoliosis), optic pathway gliomas, pheos, and increased tumor suceptability.
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Neurofibromatois type 1 is caused by a genetic defect on which chormosome?
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Long arm of chromosome 17.
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Neurfibromatois type 2 is caused by a what gene? Also, which chromosome is it found on?
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NF2 on chromosome 22
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What is the inheritence pattern of NF2?
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autosomal dominant.
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What findings are present in somebody with NF2?
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bilateral acoustic neuroma, juvenile cataracts.
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What findings would you expect to see in somebody with Tuberous sclerosis?
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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.
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What is the inheritance pattern of tuberous sclerosis?
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It is autosomal dominant, but there is incomplete penetrance and variable presentation.
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von Hippel-Lindau disease has what findings?
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hemangioblastomas of retina/cerebellum/medulla. Half of the patients will develop multiple bilateral renal cell carcinomas and other tumors.
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What gene is implicated in von Hippel-Lindau disease?
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VHL gene (a tumor suppressor) on chromosome 3 (3 words in the name von Hippel Lindau for the chromsome).
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Deletion or loss of VHL causes what?
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uninhibited expression of HIF, a TF for angiogenic growth factors
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