3.8 Clincial: Renal Masses

Question 1

Adult PCKD cause?

Answer 1

Autosomal dominant PKD due to mutation of PKD 1 or PKD 2 on Chromosome 16. PKD1 is more common

Question 2

Associated sx with adult PCKD

Answer 2

Hematuria, HTN, renal insufficiency, or flank pain

Question 3

Secondary cysts in PCKD

Answer 3

Pancreas and liver

Question 4

Child PCKD

Answer 4

Autosomal recessive. Due to mutation to PKDH1 that encodes for fibrocystin, localizes in medullary collecting ducts and TAL and in epithelial cells of hepatic bile ducts

Question 5

Medullary Cystic disease-Nephronophthsis

Answer 5

Autosomal recessive. Characterized by reduced urinary concentrating ability with bland urinary sediment, chronic tubulointerstial nephritis and progression to ESRD

Question 6

Von Hippel Lindau

Answer 6

Autosomal dom
Mult tumors- CNS always; Hemangioblasomas most common lesions
RCC- clear
Germline mutation of VHL gene

Question 7

Classic triad for Tuberous sclerosis

Answer 7

Seizures
Intellectual disability
Facial angiofibromas

Question 8

Cause of Tuberous sclerosis

Answer 8

Autosomal dominant genetic disorder; mutation of TSC1 and TSC2

Question 9

Risk of TSC

Answer 9

RCC, clear type

Question 10

TSC sx

Answer 10

Ash leaf spots to skin, cortical tubers aka glioneuronal hamartomas

Question 11

What is the first step in tx of TSC

Answer 11

Tx seizures