Hereditary/Congenital Diseases

Question 1

ADPCKD Chromosomes

Answer 1

16 (main), 4 (less common)

Question 2

ADPCKD Pathophys & location

Answer 2

Displaces Na/K ATPase to luminal side causing cysts in PT

Question 3

ADPCKD 5 Symptoms

Answer 3

HTN from stretching, so increased renin/AT2
Hematuria (non dysmorphic)
Infection
Kidney stones
ESRD (earlier in type 1, chr 16)

Question 4

ADPCKD 3 Extrarenal Manifestations

Answer 4

Cysts in other organs like liver, but asymptomatic
MV prolapse
Intracranial aneurysms (esp if FH)

Question 5

2 Tx Notes for ADPCKD

Answer 5

Transplantation is gold standard

Dius make cyst grow faster due to fluid accumulation

Question 6

ARPCKD Chromosome

Answer 6

6

Question 7

ARPCKD Location

Answer 7

CD, deep in medulla so don’t see on surface

Question 8

ARPCKD Presentation

Answer 8

Very young, often in utero, and also liver involved causing portal HTN and often need combined transplant

Question 9

Alport Syndrome Chromsome

Answer 9

Usually x-linked so males get it, daughters overall avoid but pass to sons. Deletion worse

Question 10

Alport Pathophys

Answer 10

BM Disorder of Type IV Collagen, mainly alpha3-5 chains

Question 11

3 Alport Renal Manifestations

Answer 11

Hematuria (dysmorphic)
Non-nephro proteinuria and HTN
ESRD in 100% of males w/ x link

Question 12

2 Big Alport Extrarenal Manifestations

Answer 12

Cochleaer defects/deafness

Ocular defects/anterior lenticonus

Question 13

Thin Basement Membrane Nephropathy

Answer 13

AD disease that can appear like Alport, but no progression of hematuria (& rarely proteinuria and shit) and no extrarenal manifestations

Question 14

Alport Syndrome Post-Transplant

Answer 14

Anti-GBM bc Abs never seen normal BM

Question 15

Fabry’s Disease (6)

Answer 15

XL recessive lysosomal storage disorder, deficiency of enzyme alpha galactosidase results in ceramide accumulation and purple spots EVERYWHERE. “Zebra bodies” bc occurs in layers. Treat w/ enzyme replacement