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
相关论文
共 50 条
  • [41] CLINICAL EFFICACY OF TREATMENT WITH TOLVAPTAN IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
    Martins Munoz, Judith
    Tarragon, Blanca
    De Lorenzo, Alberto
    Espinel, Laura
    Teresa Naya, Maria
    Cubas, Alfonso
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 : I13 - I13
  • [42] CLINICAL AND LABORATORY PROFILE OF PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD)
    Gkika, Vasiliki
    Louka, Michaela
    Kanellopoulou, Konstantina
    Fokas, Stavros
    Tigka, Eirini
    Tsagkatakis, Mihail
    Kostopoulou, Myrto
    Koutsogianni, Anastasia
    Lymperopoulos, Konstantinos
    Tsirpanlis, George
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 : I4 - I4
  • [43] Clinical and Laboratory Profile of Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
    Gkika, Vasiliki
    Louka, Michaela
    Tigka, Eirini
    Kostopoulou, Myrto
    Tsirpanlis, George I.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 935 - 936
  • [44] Autosomal dominant polycystic kidney disease
    Chow, Chern Li
    Ong, Albert C. M.
    CLINICAL MEDICINE, 2009, 9 (03) : 278 - 283
  • [45] Autosomal dominant polycystic kidney disease
    Simms, Roslyn J.
    BMJ-BRITISH MEDICAL JOURNAL, 2016, 352
  • [46] Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease
    Lanktree, Matthew B.
    Iliuta, Ioan-Andrei
    Haghighi, Amirreza
    Song, Xuewen
    Pei, York
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2019, 34 (09) : 1453 - 1460
  • [47] Autosomal dominant polycystic kidney disease
    Lanktree, Matthew B.
    Chapman, Arlene B.
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 2017, 189 (45) : E1396 - E1396
  • [48] Autosomal Dominant Polycystic Kidney Disease
    Zacharia, George Sarin
    Rajakumari, P. K.
    JOURNAL OF PIONEERING MEDICAL SCIENCES, 2013, 3 (04): : 194 - 195
  • [49] AUTOSOMAL DOMINANT POLYCYSTIC DISEASE OF THE KIDNEY
    FICK, G
    WEBER, M
    DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1992, 117 (30) : 1160 - 1164
  • [50] Autosomal dominant polycystic kidney disease
    Silverman, Jonathan
    Desai, Chaitanya
    Lerma, Edgar V.
    DM DISEASE-A-MONTH, 2015, 61 (10): : 442 - 447
12345