Korean Journal of Nephrology 1996;15(1):52-64.

상염색체 우성 다낭신의 임상상 및 유전학적 특성

이중건 , 안규리 , 오지은 , 이상구 , 허우성 , 윤형진 , 한진석 , 김성권 , 이정상 , 김승협

Abstract

To elucidate clinical and genetic characteristics of ADPKD in Korea, 90 ADPKD patients were analy- zed retrospectively. Linkage analysis on PKD-1 locus (16p 13.3) and family screening based on ultrasonography were also performed(SM7, KG8). 1) The male-to-female ratio was 36: 54, and age at diagnosis was 44+11.3(Mean+SD) years. 2) Common symptorns were headache(70M), abdo- minal mass(68%), flank pain(51%) and abdominal pain(42%). Other organ involvements included hepa- tic cysts(76%), pancreatic cysts, splenic cysts, ovarian cysts, valvular heart disease(7/19 cases) and cerebrovascular accidents(5/14 cases). 3) Family history of ADPKD was taken from 54% of patients', hypertension 53%', cerebrovascular accident 40%. In laboratory study, anemia(51%), hy- peruricemia(29%), proteinuria(48%), pyuria(40%), he- maturia(29%) were found frequently. 4) Among the complications associated with renal cysts, hypertension was observed in 73%, hemor- rhage 37%, urinary tract infection 24%, urolithiasis 15%, end stage renal disease(ESRD) 23%, and the mean age at ESRD was 49+7.9 years old. Male was progressed to ESRD at younger age than female(47 +6.2: 53+8.5)(p<0.05) and nausea, hepatomegaly, urinary tract infection were found more commonly in wornan. 5) Sonographic screening was done in 13 families, and among them, we performed linkage analysis of 7 families on PKD-1 locus. 3 families were linked with the PKD-1 locus, 2 families were not linked, and 2 families were unconclusive. Conclusion ' The clinical features of ADPKD in Korea were similar to those of other races except more frequent incidences in hepatic cysts. Results of linkage analysis suggest the possibility of a larger proportion of non-PKD-1 families than that of westem, but it is necessary to study more families.