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19 Cards in this Set

  • Front
  • Back
APKD
always bilateral, massive enlargement of kidneys due to multiple large cysts
assoc with polycystic liver disease, berry aneurysms, mtiral valve prolapse
chromo 16
Familiar hypercholesterolemia
elevated LDL owing to defective or absent LDL receptor; severe atherosclerotic disease early in life, tendon xanthomas; MI before 20
Marfans
fibrillin gene mutation-->connective tissue disorders
skeletal abnormalities-tall with long extremities, pectus excavatum, hyperextensive joints, long tapering fingers and toes
CV- cystic medial necrosis of aorta-->aoritc incompetance and dissecting AA, floppy mitral vlave
NF 1 (von Recklinghousens)
cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal disorders, optic gliomas, PCC, increased tumor susceptibility
chromo 17
NF 2
bilateral accoustic neuroma, juvenile cataracts, NF 2 on chromo 22
Tuberus sclerosis
facial lesions, hypopigmented ash leaf spots on skin, cortical and retinal hamartomas, szs, MR, renal cysts, cardiac rhabdomyomas, incomplete penetrance, variable presentation
VHL disease
hemangioblastomas of retina/CBL/medulla, mutliple bilateral RCC
deletion of VHL gene on chromo 3
PCC, RCC
Huntingtons
depression, progressive dementia, choreiform movements, caudate atrophy, decreased GABA and ACh
chromo 4, triplet repeat disorder
Cs of huntingtons
Chorea
caudate atrophy
crazy (dementia)
decraesed ACh
chromo 4
cuarenta
FAP
colon becomes covered with adenomatous polyps after puberty; will get colon cancer
deletion in chromo 5, APC gene
hereditary spherocytosis
spheroid erythrocytes, hemolytic anemia, increased MCHC; splenectomy is curative
defect in spectrin
dx with osmotic fragility test
Achrondroplasia
AD cell signalling defect of FGF receptor 3; results in dwarfism, short limbs but head and trunk are normal size
advance paternal age
ARD
CF, albinism, AAT def, phenylketonuria, thalassemias, sickle cell anemias, glycogen storage diseases, mucopolysaccharidoses (except Hunters), sphingolipidoses (except Fabrys), infant PKD, hemochromatosis
CF
AR defect in CFTR on chromo 7; defective channel, very viscous secretions
get chronic bronchitis, brochiectasis, pancreatic insuff
Tx: N-acetylcysteine, keep lungs clear
XRD
Brutons, Wiskott Aldrich, Fragile X, G6PD def, Ocular albinism, Lesch-Nyhan, Duchennes, Hemophilia A and B, Fabrys, Hunters
Females rarely affected
DMD
deletion of dystrophin gene by frameshift mutation
early onset
pseudohypertrophy of the calf due to fibrofatty replacement of muscle, cardiac myopathy
Beckers MD
mutated dystrophin gene; less severe
later onset
Fragile X
affects methylation and expression of FMR1 (mRNA translation) gene; 2nd most common cause of MR
macroorchidism, long face with long jaw, large everted ears, autism
Triplet repeat: CGC
Trinucleotide repeat disorders
Huntingtons, myotonic dystrophy, Friedrich's ataxia, fragile X