AUTOSOMAL DOMINANT POLYCYSTIC DISEASE

OF THE KIDNEY (ADPCDK)

 

·         ADPCDK is an autosomal dominant condition, with almost 100% penetrance, that usually presents in the fourth decade of life but may present in the fetus (1,2).

·         Adult polycystic kidney disease or DPKD is the most common cystic kidney disease and is responsible for 10% to 12% of patients on chronic dialysis.

·         ADPKD is rarely seen in utero because less than 5% of the nephrons are cystic antenatally. There are normal collecting tubules and nephrons interspersed among abnormal areas.

·         Abnormalities of chromosomes 16p and 4q have been reported.

·         In reported fetal cases, the kidneys were enlarged and echogenic with cysts seen in the cortex and medulla. Renal cysts are rarely seen in normal children; hence, when imaged, although at times part of some syndromes, one must consider the possibility of ADPKD. Analysis of the US or medical history of older family members can help make the diagnosis. Cysts are readily seen in the affected adult patient with a reported US sensitivity of 100% in those greater than 30 years of age

 

ULTRASOUND

 

  • Usually both kidneys are enlarged and hyperechoic.
  • Multiple renal cysts (unilateral or bilateral).
  • Cysts are small and of uniform shape, representing dilated nephrons and not tubules (as in the autosomal recessive form).
  • Amniotic fluid volume is normal.
  • Hepatic cystic disease (non-obstructive biliary ectasia) occurs occasionally (not usually a feature in the fetus).
  • Pancreatic cystic disease (usually not a feature in the fetus).

 

 

 

REFERENCES
  1. Main D, Mennuti MT, Cornfeld D et.al. Prenatal diagnosis of adult polycystic disease. Lancet 1983;2:337.
  2. Zerres K, Weiss H, Bulla M. Prenatal diagnosis of an early manifestation of autosomal dominant-type polycystic kidney disease. Lancet 1982;2:988.