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

页码：767 / 779

页数：13

共 76 条

[1] Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes [J].

Bogdanova, N ;

Markoff, A ;

Gerke, V ;

McCluskey, M ;

Horst, J ;

Dworniczak, B .

GENOMICS, 2001, 74 (03) :333-341

[2] A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases [J].

Bullich, Gemma ;

Domingo-Gallego, Andrea ;

Vargas, Ivan ;

Ruiz, Patricia ;

Lorente-Grandoso, Laura ;

Furlano, Monica ;

Fraga, Gloria ;

Madrid, Alvaro ;

Ariceta, Gema ;

Borregan, Mar ;

Alberto Pinero-Fernandez, Juan ;

Rodriguez-Pena, Lidia ;

Juliana Ballesta-Martinez, Maria ;

Llano-Rivas, Isabel ;

Aguirre Menica, Mireia ;

Ballarin, Jose ;

Torrents, David ;

Torra, Roser ;

Ars, Elisabet .

KIDNEY INTERNATIONAL, 2018, 94 (02) :363-371

[3] Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) [J].

Carrera, Paola ;

Calzavara, Silvia ;

Magistroni, Riccardo ;

den Dunnen, Johan T. ;

Rigo, Francesca ;

Stenirri, Stefania ;

Testa, Francesca ;

Messa, Piergiorgio ;

Cerutti, Roberta ;

Scolari, Francesco ;

Izzi, Claudia ;

Edefonti, Alberto ;

Negrisolo, Susanna ;

Benetti, Elisa ;

Alibrandi, Maria Teresa Sciarrone ;

Manunta, Paolo ;

Boletta, Alessandra ;

Ferrari, Maurizio .

SCIENTIFIC REPORTS, 2016, 6

[4] Physicians' perceptions of asymptomatic hyperuricemia in patients with chronic kidney disease: A questionnaire survey [J].

Cha, Ran-hui ;

Kim, Su Hyun ;

Bae, Eun Hui ;

Yu, Mina ;

Choi, Beom Soon ;

Choi, Hoon Young ;

Kang, Sun Woo ;

Shin, Jungho ;

Han, Sang Youb ;

Yang, Chul Woo ;

Kang, Duk-Hee .

KIDNEY RESEARCH AND CLINICAL PRACTICE, 2019, 38 (03) :373-381

[5] Approaches to testing new treatments in autosomal dominant polycystic kidney disease: Insights from the CRISP and HALT-PKD studies [J].

Chapman, Arlene B. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2008, 3 (04) :1197-1204

[6] Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference [J].

Chapman, Arlene B. ;

Devuyst, Olivier ;

Eckardt, Kai-Uwe ;

Gansevoort, Ron T. ;

Harris, Tess ;

Horie, Shigeo ;

Kasiske, Bertram L. ;

Odland, Dwight ;

Pei, York ;

Perrone, Ronald D. ;

Pirson, Yves ;

Schrier, Robert W. ;

Torra, Roser ;

Torres, Vicente E. ;

Watnick, Terry ;

Wheeler, David C. .

KIDNEY INTERNATIONAL, 2015, 88 (01) :17-27

[7] Kidney Volume and Functional Outcomes in Autosomal Dominant Polycystic Kidney Disease [J].

Chapman, Arlene B. ;

Bost, James E. ;

Torres, Vicente E. ;

Guay-Woodford, Lisa ;

Bae, Kyongtae Ty ;

Landsittel, Douglas ;

Li, Jie ;

King, Bernard F. ;

Martin, Diego ;

Wetzel, Louis H. ;

Lockhart, Mark E. ;

Harris, Peter C. ;

Moxey-Mims, Marva ;

Flessner, Mike ;

Bennett, William M. ;

Grantham, Jared J. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2012, 7 (03) :479-486

[8] Recent Advances in the Management of Autosomal Dominant Polycystic Kidney Disease [J].

Chebib, Fouad T. ;

Torres, Vicente E. .

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2018, 13 (11) :1765-1776

[9] Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease [J].

Chebib, Fouad T. ;

Jung, Yeonsoon ;

Heyer, Christina M. ;

Irazabal, Maria V. ;

Hogan, Marie C. ;

Harris, Peter C. ;

Torres, Vicente E. ;

El-Zoghby, Ziad M. .

NEPHROLOGY DIALYSIS TRANSPLANTATION, 2016, 31 (06) :952-960

[10] Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016 [J].

Chebib, Fouad T. ;

Torres, Vicente E. .

AMERICAN JOURNAL OF KIDNEY DISEASES, 2016, 67 (05) :792-810

← 1 2 3 4 5 6 7 8 →