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

期刊

KOREAN JOURNAL OF INTERNAL MEDICINE
卷 36, 期 4, 页码 767-779

出版社

KOREAN ASSOC INTERNAL MEDICINE
DOI: 10.3904/kjim.2021.176

关键词

Autosomal dominant polycystic kidney disease; PKD1; PKD2; Disease progression; Tolvaptan

资金

  1. Korea Disease Control and Prevention Agency [2019-ER-7304-00, 2019-ER-7304-01]

向作者/读者索取更多资源

ADPKD is the most common hereditary kidney disease characterized by cyst growth in the kidneys. Genes PKD1 and PKD2 are related to the disease, and predictive tests and clinical factors for disease progression have been established. Ongoing studies in Korean ADPKD patients aim to further understand the genetic and clinical characteristics.
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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