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김형규,권영주,박상은,차대룡,신진호,조원용,김향,이규백,표희정,이영래,조상경,김용섭,서상열 대한신장학회 1999 Kidney Research and Clinical Practice Vol.18 No.5
Autosomal dominant polycystic kidney disease (ADPKD) is one of most common hereditary disorders that is potentially fatal. To elucidate clinical and genetic characteristics of ADPKD in Korea, 166 patients were analyzed retrospectively. The results were as follows ; 1) The male-to-female ratio was 83: 83, and age of patients was 4813(meanSD) years. 6496 of patients have a family history of the ADPKD. 2) Most common symptom was flank and abdominal pain. In urinalysis, proteinuria(42%), hematuria(18%) were found. Other organ involvement included hepatic cysts(58%), pancreatic cysts(8%) and splenic cyst(296). 3) The age at diagnosis was 44% 12 years. Hypertension was observed in 65%, the age of detection was 45% 11 years. Azotemia was observed in 36%, the age of detection was 52±11 years. 4) Echocardiography showed left ventricular hypertrophy 5896(19/33), valve regurgitation 1596(5/33) and mitral valve prolapse 3%(1/33). Cerebrovascular events occurred in 14 patients(8.4%), and 6 patients confirmed cerebral aneurysm rupture. 5) 29 patients(17%) reached end stage renal failure(ESRD), the age was 53±10 years. The provability of being alive and not having ESRD was 88% by age 50, 76% by age 58, and 48% by age 65. Sex and hepatic cyst were not associated significantly with the course of renal function(p$gt;0.05). 6) 15 patients(9%) died, the age of death was 55±12 years. 6 patients died after reaching ESRD. The cause of death were was cancer(4), cerebrovascular event(3), cessation of dialysis(2), sudden death (2), liver cirrhosis(1), sepsis(1), suicide(1) and unknown(1). Results of our study revealed the complications of ADPKD in Korea, hypertension 6596, ESRD 17% and cerebrovascular event 8%. Functional survival was 88M by age 50, 76% by age 58, and 48M by age 65. The extrarenal manifestations are more important contributors to mortality than renal manifestations of ADPKD.
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