Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
19 Cards in this Set
- Front
- Back
|
Achondroplasia |
Defect: cell signaling of FGF–3 |
|
|
ADPKD is associated with? |
Polycystic liver disease
berry aneurysm MVP |
|
|
Adult polycystic kidney disease |
Mut: APKD1, chromosome 16
CF: 1– bilateral massive enlargement of the kidneys 2– flank pain 3– hematuria 4– HTN 5– progressive renal faiture |
|
|
Hereditary hemorrhagic telangiectasia |
Disorder of blood vessels
Telangestacia recurrent epistaxis skin discolorations AVMs |
|
|
Familial adenomatous polyposis |
APC gene= Deletion on Chromosome 5
Adematous polyps after puberty ↑ ↑ ↑ risk of colon CA |
|
|
Familial hypercholesterolemia |
Defective or absence of LDL receptor= ↑LDL
1– tendon xanthomas (achiles tendon) 2– severe artherosclerosis 3– MI before 20 |
|
|
Hereditary spherocytosis |
Defect in spectrin or ankyrin
→ spherocytes CF: 1– hemolytic anemia 2– ↑MCHC 3- Jaundice Dx with Osmotic Fragility Test Tx with splenectomy |
|
|
Huntington's disease |
"Cs":
Chromosome 4 ("cuatro") CAG repetition CF: 1– Cognitive decline: depression , dementia 2 choreiform movements 3– caudate atrophy 4– ↓GABA and ACh 5-- "cuarenta"--presents at 40 |
|
|
Marfan's syndrome |
Fibrillin gene mutation CF 1– tall w long extremities 2– pectus excavatum 3– hyperextensive joints 4– long, tapering fingers and toes 5– cystic medial necrosis of aorta––> aortic incompetence and dissecting aortic aneurysms 6– Floppy mitral valve 7– subluxation of lenses |
|
|
MEN 1 |
MEN1 mutation
3 P's parathyroid, pancreatic, pituitary tumors |
|
|
MEN 2A |
RET gene
Medullary thyroid carcinoma pheocromocytoma parathyroid tumor |
|
|
MEN 2B |
Medullary thyroid carcinoma
pheocromocytoma Oral/intestinal ganglioneuromatosis= marfan habitus |
|
|
Neurofibromatosis 1 (Von Reckilghausen's disease) |
Mutation on long arm chr 17
Cafe–au– lait spots neural tumors Lisch nodules Scoliosis optic pathway gliomas pheocromocytomas ↑tumor susceptibility |
|
|
Neurofibromatosis 2 |
NF 2 on chromosome 22
Bilateral acoustic neuroma juvenile cataracts |
|
|
Tuberous sclerosis |
Facial lesion (adenoma sebaceum)
hypopigmented ash leaf spots cortical and retinal hamartomas seizures renal cysts MR Renal angiomyolipoma cardiac rhabdomyoma ↑ incidence of astrocytoma |
|
|
TX for hereditary spherocytosis |
Splenectomy
|
|
|
Von–Hippel– Lindau |
Deletion on VHL gene on chr 3
→ VEGF CF: 1– hemangioblastomas 2– multiple bilateral renal cell carcinomas 3--Pheochromocytomas |
|
|
|
Abnormalities in TP 53 |
|
|
Gardner Syndrome |
APC gene mutation: |
