Section 1

Preview this deck

liver, berry aneurysms, mitral valve prolapse, aortic insufficiency

Front

Star 0%
Star 0%
Star 0%
Star 0%
Star 0%

0.0

0 reviews

5
0
4
0
3
0
2
0
1
0

Active users

0

All-time users

0

Favorites

0

Last updated

6 years ago

Date created

Mar 1, 2020

Cards (15)

Section 1

(15 cards)

liver, berry aneurysms, mitral valve prolapse, aortic insufficiency

Front

what other organs is affected w/ ADPKD

Back

16p13.3

Front

chromosome and loci of PKD-1 mutation seen in ADPKD

Back

mean age = 69 yrs

Front

mean age of ESRD in ADPKD w/ PKD-2 mutation

Back

massive cystic enlargement of kidneys

Front

hallmark of ADPKD

Back

AD

Front

inheritance of Von Hippel Lindau Disease

Back

Ca2+

Front

Polycystin 1 and 2 are necessary for cooperation in handling VG channels assoc w/ what ion?

Back

AD

Front

Inheritance of ADPKD

Back

polycystin 1 (PKD-1)

Front

ADPKD mutation of chrom 16p13.3 encodes a defect in what protein

Back

AD w/ high spontaneous disorders

Front

inheritance of Tuberous Sclerosis complex

Back

4q21.2

Front

chromosome and loci of PKD-2 mutation seen in ADPKD

Back

TSC1 (hamartin), TSC2 (tuberin)

Front

loci names and proteins affected by tuberous sclerosis complex

Back

mean age = 53 yr

Front

mean age of ESRD in ADPKD w/ PDK-1 mutation

Back

facial angiofibromas (adenoma sebaceoum), retinal hamartomas, seizures

Front

complications assoc w/ tuberous sclerosis complex

Back

polycystin 2 (PKD-2)

Front

ADPKD mutation of chrom 4q21.2 encodes a defect in what protein

Back

6p; PKHD1; polyductin or fibrocystin

Front

chrom affected in ARPKD? name of loci? protein affected?

Back