Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.

Background: There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients.

Methods: PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed.

Results: All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic bile duct dilatation. One of three children had classical multiple small cysts throughout the kidneys, and the other two children had bilateral multiple renal cysts of various sizes. Two children had abnormally shaped livers, portal hypertension and splenomegaly. Two heterozygous mutations (p.T36M, and p.P137S) were detected in Patient 1 and two were detected in Patient 2 (p.L2658X and p.V836A). One heterozygous mutation (p.L1425R) was detected in Patient 3.

Conclusions: The study shows that renal and liver phenotypes of the Chinese children varied. Five mutations were identified in the three children, three of which were novel mutations.