Inherited Renal Diseases

Question 1

horseshoe kidney

Answer 1

conjoined @ lower pole

located in lower abdomen b/c can’t ascent (gets stuck on IMA)

Question 2

Renal agenesis

Answer 2

unilateral: presents later in life w/ hypertrophy and hyper filtration
bilateral: incompatible w/ life. oligoamniohydroisis –> Potter sequence (lung hypoplasia, flat face w/ lowset ears, limb deformities)

Question 3

dysplastic kidney

Answer 3

NOT INHERITED
congenital malformation –> cysts and abnormal tissues like cartilage in the kidneys
usually unilateral, but can be bilateral

Question 4

polycystic kidney disease

Answer 4

inherited defect –> bilateral enlarged kidneys w/ cysts
autosomal recessive: presents as infant w/ renal failure, portal HTN (hepatic cysts and fibrosis), aspects of Potter sequence
autosomal dominant: presents as a young adult due to defect in PKD1 or PKD2. extra-renal manifestations: MVP, berry aneurysm, hepatic cysts

Question 5

medullary cystic kidney disease

Answer 5

Inherited autosomal dominant —> cysts in medullary collecting duct
SHRUNKEN kidneys

Question 6

tuberous sclerosis

Answer 6

tumor suppressor gene mutation 
ash-leaf spots
hamartomas in brain, lungs, kidneys, eyes
hemorrhage w/ mild trauma
mildly increased risk of malignancy
prenatal US can detect disease in utero

Question 7

von Hippel Lindau

Answer 7

tumor suppressor gene mutation
hemangioblastomas of brain and eyes
significant risk of renal cell carcinoma