Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by cyst growth in the kidneys, resulting in kidney enlargement and end-stage kidney disease. The polycystic kidney disease 1 ( PKD1 ) and PKD2 have been identified as genes related...

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Bibliographic Details
Published in:The Korean journal of internal medicine 2021, 36(4), , pp.767-779
Main Authors: Oh, Yun Kyu, Park, Hayne Cho, Ryu, Hyunjin, Kim, Yong-Chul, Oh, Kook-Hwan
Format: Article
Language:English
Subjects:
autosomal dominant polycystic kidney disease
disease progression
pkd1
pkd2
Review
tolvaptan
내과학
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Summary:Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by cyst growth in the kidneys, resulting in kidney enlargement and end-stage kidney disease. The polycystic kidney disease 1 ( PKD1 ) and PKD2 have been identified as genes related to ADPKD and their significance in the molecular pathology of the disease has been studied. A disease-modifying drug has been approved; therefore, it has become important to identify patients at a high risk of kidney disease progression. Genetic tests, image analysis methods, and clinical factors for kidney disease progression prediction have been established. This review describes genetic and clinical characteristics, and discusses ongoing studies in Korean ADPKD patients.
ISSN:1226-3303
2005-6648
DOI:10.3904/kjim.2021.176