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

被引：9
|
作者：
Oh, Yun Kyu [1 ,2 ]
Park, Hayne Cho [3 ]
Ryu, Hyunjin [1 ,4 ]
Kim, Yong-Chul [1 ,4 ]
Oh, Kook-Hwan [1 ,4 ]
机构：
[1] Seoul Natl Univ, Dept Internal Med, Coll Med, Seoul, South Korea
[2] Seoul Natl Univ, Dept Internal Med, Seoul Metropolitan Govt, Boramae Med Ctr, 20 Boramae Ro 5 Gil, Seoul 07061, South Korea
[3] Hallym Univ, Dept Internal Med, Kangnam Sacred Heart Hosp, Seoul, South Korea
[4] Seoul Natl Univ Hosp, Dept Internal Med, Seoul, South Korea
来源：
KOREAN JOURNAL OF INTERNAL MEDICINE | 2021年 / 36卷 / 04期
关键词：
Autosomal dominant polycystic kidney disease; PKD1; PKD2; Disease progression; Tolvaptan; VOLUME; PROGRESSION; MECHANISMS; TOLVAPTAN; GENOTYPE; OUTCOMES; ADPKD; RISK; MUTATIONS; MORTALITY;
D O I：
10.3904/kjim.2021.176
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：767 / 779
页数：13
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