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Kidney Week

Abstract: FR-PO806

Genotype and Phenotype Correlation in a Chinese Cohort with Autosomal Dominant Tubulointerstitial Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Gong, Kunjing, Peking University First Hospital, Beijing, China
  • Xia, Min, Renal Division, Peking University First Hospital, Beijing, China
  • Chen, Yuqing, Peking University First Hospital, Beijing, China

Autosomal dominant tubulointerstitial kidney disease (ADTKD) characterized by tubulointerstitial damage and progressive chronic kidney injury might be an important cause of chronic kidney disease for patients with family aggregation of ESRD. UMOD, HNF1B, MUC1, REN and SEC61A1 were reported to be the disease causing genes. In this study, we screened genetic variations and did a follow-up study in a Chinese suspected ADTKD cohort.


80 individuals from 53 families suspected with ADTKD were enrolled. Demographic data, clinical data and family history of the 53 probands were obtained from clinical record. Genetic testing for UMOD, HNF1B, REN, MUC1 and SEC61A1 were performed with suitable method of direct sequence, multiple ligation-dependent probe amplification (MLPA) or next-generation sequencing (NGS). We performed a 1-5 years’ flow-up study for the 53 probands.


According to the genetic variants identified in the cohort, 11 persons were diagnosed as ADTKD-UMOD, 1 as ADTKD-REN and 1 as ADTKD-HNF1B. Pathogenic variant in MUC1 and SEC6lA1 genes were not confirmed. The mean age of diagnosis was 30±11years, and numbers of males and females were almost equal. Hyperuricemia and decreased kidney function were the common features. But clinical features were similar between patients with genetic variants and without variants (ADTKD-NOS). Flow-up study data from 35 probands were available while 18 probands lost. According to the flow-up study, ADTKD-NOS patients had better outcome than those patients identified genetic variants (p=0.011). Among the 11 variants in UMOD, 5 effected cysteine and 6 effected other amino acid. 80%ADTKD-UMOD patients with pathogenic variants lead to cysteine substitution did not develop to ESRD while 83.3% ADTKD-UMOD patients with other amino acid substitution developed ESRD.


24.5% patients diagnosed ADTKD in a Chinese suspected ADTKD and UMOD was the mainly disease causing gene. Clinical features are not specific in patients carried pathogenic mutations compared to those without mutations. Renal survival of ADTKD-NOS is better than patients identified genetic variants. ADTKD-UMOD patients with pathogenic variants lead to cysteine substitution tend to have better outcome.


  • Government Support - Non-U.S.