Genetic Kidney Disease Flashcards
1
Q
renal manifestations of ADPKD (autosomal dominant polycystic KD)
A
- progressive renal failure
- HTN
- hematuria
- pain
- nephrolithiasis
- infections (pyelo)
2
Q
5 extrarenal manifestations of ADPKD
A
- liver, pancreatic, ovarian cysts
- aneurysms
- diverticulosis
- mitral valve prolapse
- male infertility
3
Q
mutations in ADPKD
A
either PKD1 or PKD2- ciliary proteins in tubular epithelium
most common genetic kidney disease
PKD1 is earlier onset ESRD
4
Q
tx for ADPKD
A
none shown to slow cyst or disease progression, prognosis and GFR decline related to rate of cyst growht
5
Q
transmission of alport
A
x linked
6
Q
dx of alport
A
biopsy not always diagnostic, genetic testing is easier
7
Q
transmission of fabry disease
A
x linked lysosomal storage disorder
8
Q
describe Fabry presentation
A
skin-angiokeratoma eye- corneal whorl GI-diarrhea cardiac- atherosclerosis, HF neuro- autonomic dysfn, pain crises renal- proteinuria w/ low eGFR, half to ESRD
9
Q
fabry etiology
A
deficiency of alpha-galactosidase A enzyme, glycosphingolipids accumulate in cells
10
Q
dx of fabry
A
a-galactosidase level
in women- genetic testing for GLA sequence
