Congenital renal disorders

Question 1

Cause of Potter syndrome/sequence

Answer 1

Oligohydramnios –> possible due to kidney agenesis

Question 2

Features of Potter syndrome/sequence

Answer 2

Low set ears
Receding chin
Beak-like nose
Pulmonary hypoplasia

Question 3

Complication that develops later in those born with unilateral kidney agenesis

Answer 3

Progressive glomerular sclerosis

Question 4

Complications at higher risk in horseshoe kidney

Answer 4

Obstruction
Pyelonephritis

Question 5

Cause of cystic/multicystic renal dysplasia

Answer 5

Abnormality of metanephric differentiation

Question 6

Histologic features of cystic/multicystic renal dysplasia

Answer 6

Persistence of abnormal structures –> undifferentiated mesenchyme, cartilage, and immature collecting ducts

Abnormal lobar organization

Question 7

Genes affected in ADPKD

Answer 7

PKD1/polycystin-1 on chromosome 16p

PKD2/polycystin-2 on chromosome 4q

Question 8

Result of mutations in ADPKD

Answer 8

Altered mechanosensation by tubular cilia and altered calcium flux –> results in altered tubular epithelial growth and differentiation leading to cyst formation

Question 9

Hereditary condition with bilaterally enlarged kidneys and mass of cysts (3-4 cms in diameter) filled with clear or turbid blood-tinged fluid. The cysts arise in tubules throughout the nephron.

Answer 9

ADPKD

Question 10

Clinical features of ADPKD

Answer 10

Presents in 4-5th decade –> pain, renal colic, dragging sensation, hematuria, proteinuria, and HTN

Question 11

Other situations with cysts in ADPKD

Answer 11

Polycystic liver disease (40%)
Spleen, pancreas, and lungs
Intracranial berry aneurysms (death in 10-15%)

Question 12

Inheritance of childhood PKD

Answer 12

Autosomal recessive

Question 13

Gene mutated in childhood PKD

Answer 13

PKHD1 - fibrocystin

Question 14

Hereditary condition enlarged, smooth kidneys. Cut surface reveals sponge-like texture with multiple cysts. All the cysts originate from collecting tubules.

Answer 14

Childhood PKD

Question 15

Non-renal involvement in childhood PKD

Answer 15

Liver cysts –> congenital hepatic fibrosis

Question 16

Acquired form of cystic kidney disease

Answer 16

Dialysis associated with numerous cortical and medullary cysts that contain calcium oxalate crystals

Question 17

Medullary cysts on excretory urography with hematuria, UTI, and recurrent renal stones. Benign.

Answer 17

Medullary sponge kidney

Question 18

Inheritance of familial juvenile nephronophthisis

Answer 18

Autosomal recessive

Question 19

Corticomedullary cysts and shrunken kidneys that causes progressive renal failure beginning in childhood. With salt wasting, polyuria, growth retardation, and anemia.

Answer 19

Familial juvenile nephronophthisis

Question 20

Inheritance of adult-onset medullary cystic disease

Answer 20

Autosomal dominant

Question 21

Corticomedullary cysts and shrunken kidneys that causes chronic renal failure beginning in adulthood. With salt wasting and polyuria.

Answer 21

Adult-onset medullary cystic disease

Question 22

Single or multiple cysts in normal-sized kidneys, benign and possibly with microscopic hematuria.

Answer 22

Simple cysts

Question 23

Cystic degeneration in end-stage kidney disease, associated with dialysis.

Answer 23

Acquired renal cystic disease