[Genetic heterogeneity and phenotypes of autosomal dominant polycystic kidney disease in Chinese Han nationality].

OBJECTIVE

To study the genetic heterogeneity of autosomal dominant polycystic kidney disease by linkage analysis with microsatellite DNA tightly linked to PKD1 and PKD2 in Shanghai Han nationality population and to compare the clinical presentation of ADPKD type 1 and 2.

METHODS

43 unrelated ADPKD families were included in this study after informed consent was obtained. Families were typed by using microsatellites for PKD1 and PKD2. Microsatellite DNA were amplified by polymerase chain reaction and studied by linkage analysis. The clinical history, symptoms, complications and records of ultrasound examination of patients of ADPKD type 1 and 2 were collected. The data were analyzed by medical statistics.

RESULTS

In total families, 36 families showed to be linked to PKD1, which accounts to 84% of all families. 7 families linked to PKD2, which accounts to 16%. The diagnosis age of patients of ADPKD type 1 and type 2 is 36.8 year and 46.3 year, the frequency and diagnosis age of hypertension is 62%, 54% and 37.4 year, 49.1 year, and the frequency of hepatic cysts, urinary-tract infection, macrohematuria, urinary-tract calculi, cerebrovascular accident is 59% and 60%, 20% and 26%, 33% and 20%, 24% and 14%, 13% and 7%, respectively, the onset age of ESRD is 51.2 year and 64.7 year.

CONCLUSION

The results in this study were similar to the ones of foreign reports. There is no significant difference of frequencies of complications between the patients of two types. But the diagnosis age of ADPKD and hypertension, the onset age of ESRD of patients of type 1 are earlier than that of type 2, which suggests that the prognosis of patients of type 2 is better than that of type 1.