Cystic diseases of the kidney

Question 1

Autosomal dominant PCKD

genes causing it

Answer 1

PKD1 - 85%
PKD2 - 15%

Polycystin-1 and 2 glycoproteins mediating epithelial cell attachments

Question 2

AD PCKD treatment

Answer 2

Only symptomatic, manage blood pressure, dialysis/transplant when indicated

Question 3

Autosomal recessive PCKD gene causing it

Answer 3

PKHD1

Polycystic kidney and hepatic disease 1

Question 4

Symptoms of Autosomal Recessive PCKD

Answer 4

presents in infants with

1) Progressive renal insufficiency, ESRF before adolescence
2) Systemic and portal hypertension from hepatic fibrosis.

Sometimes presents immediately at birth with
 Potter sequence from oligohydraminos
     - Club feet
     - Pulmonary hyperplasia
     - Craniofacial abnormalities

Question 5

List the cystic diseases

6

Answer 5

Simple cysts
Autosomal dominant PCKD
AR PCKD
Medullary cystic disease
Medullary sponge kidney

Acquired cystic disease from ESRF and dialysis or tumors

Question 6

Medullary cystic kidney disease

presentation

Answer 6

Presents in early adolescence,
Inherited genetic disease.
Small, shrunken kidneys and impaired kidney function.
Cysts located at the corticomedullary border and in medulla.

• polydipsia
• polyuria
• anemia
• growth retardation

Progresses to ESRF

Question 7

Medullary sponge kidney

Answer 7

Also congenital disease,
Many small cysts which may be elusive on imaging form in the collecting duct and medulla.

Kidney is normal sized
Recurrent hematuria, UTIs, and renal calculi

Impaired medullary/collecting duct function due to cysts, - polydipsia

• polyuria
• Renatl tubular acidosis, impaired acidification of urine

Treatment is of the symptoms.