Korean Journal of Nephrology 1998;17(5):714-726.

한국인 상염색체 우성 다낭신 49 Probands의 가계도 및 임상상 분석 (Clinical and Genetic Characteristics of 49 Probands of Autosomal Dominant Polycystic Kidney Disease in Korea)

황대연, 안규리, 이중건, 김영임, 한진석, 김성권, 김승협, 이정상 (Dae Yeon Hwang, Curie Ahn, Jung Geon Lee, Young Im Kim, Jin Suk Han, Sunggwon Kim, Jung Sang Lee and Seung Hyup Kim)

Abstract

We analysed the 49 probands of autosomal dominant polycystic kidney disease(ADPKD) in Korea to elucidate clinical and genetic characteristics. 1) Family history of renal disease or ADPKD was taken from 44% of probands; hypertension 88%, cerebrovascular attack 64%, end stage renal disease 16%. 2) From the family screening with renal ultrasonography, we have confirmed dominant trait in 24 families. We found 2 families which have suspicious new mutations. 3) We performed linkage analysis of 15 families. The PKD-1 to non PKD-1 ratio was 13 : 2. 4) The male to femal ratio was 17 : 32 and age at diagnosis was 41(24-65)years (mean(range)) in male, 45(26-68) years in female. 5) The factors leading to the diagnosis of ADPKD were flank pain(23%), incidental finding (17%), palpable abdominal mass(11%), headache(9%) and gross hematuria(9%) 3) Hypertension(80%), azotemia(43%), flank pain (42%), renal calcification (42%), gross hematuria (33%) and cyst hemorrhage(25%) were renal complications. There were 2 renal cell carcinoma cases. 4)Liver cyst(82%) was the most common extrarenal manifestations. There were colonic diverticulosis(13%), cerebral artery aneurysm(7%), adrenal cyst(4%) and pancreatic cyst(2%). Results of our study revealed the clinical and genetic characteristics of ADPKD in Korea. We found only 44% of family history of renal disease, variable initial manifestations, variable renal and extrarenal complications. And we also found the similar percentage of PKD-2(13%) to that(5-15%) of western countries, but it is necessary to study with more patients and families