Korean J Intern Med.
2021 Jul;36(4):767-779. 10.3904/kjim.2021.176.
Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients
- Affiliations
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- 1Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
- 2Department of Internal Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Korea
- 3Department of Internal Medicine, Hallym University Kangnam Sacred Heart Hospital, Seoul, Korea
- 4Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea
- KMID: 2517795
- DOI: http://doi.org/10.3904/kjim.2021.176
Abstract
- 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.
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