Korean J Intern Med. 2021;36(4):767-779.

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

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제1저자 오윤규 · 교신저자 오윤규

PMID 34237823 PMC8273813 DOI 10.3904/kjim.2021.176 IF 2.2 신장내과

소속 (4)

Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Department of Internal Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, Korea.
Department of Internal Medicine, Hallym University Kangnam Sacred Heart Hospital, Seoul, Korea.
Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.

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.

Keywords

Autosomal dominant polycystic kidney diseaseDisease progressionPKD1PKD2Tolvaptan

Figures

**Figure 1.** Classification by height adjusted total kidney volume at baseline (htTKV0) and age at htTKV0 predicts the change in estimated glomerular filtration rate (eGFR) over time in class 1 patients. (A) Subclassification of patients with class 1 autosomal dominant polycystic kidney disease at baseline based on height adjusted total kidney volume (htTKV) limits for their age. Limits are defined based on estimated kidney growth rates of 1.5%, 3.0%, 4.5%, and 6.0%. (B) Slopes for men based on the longitudinal mixed-effects model for future eGFR using classification as baseline predictor. The average eGFR at baseline (75 mL/min/1.73 m²) and the average age at baseline (44 years) for all class 1 patients were used for the model. Estimated slopes (mL/ min/1.73 m² per year) by subclass (A–E) are –0.23, –1.33, –2.63, –3.48, and –4.78, respectively, for men and 0.03, –1.13, –2.43, –3.29, and –4.58, respectively, for women (not plotted). Adapted from Irazabal et al., with permission of American Society of Nephrology [49]. a Values for normal slope were obtained from a population of healthy kidney donors.

그림 출처: PubMed Central 공개 논문 (PMC8273813)

Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

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