Frontiers in Medicine (Dec 2022)
ADTKD-UMOD in a girl with a de novo mutation: A case report
- Meng-shi Li,
- Meng-shi Li,
- Meng-shi Li,
- Meng-shi Li,
- Yang Li,
- Yang Li,
- Yang Li,
- Yang Li,
- Lei Jiang,
- Lei Jiang,
- Lei Jiang,
- Lei Jiang,
- Lei Jiang,
- Zhuo-ran Song,
- Zhuo-ran Song,
- Zhuo-ran Song,
- Zhuo-ran Song,
- Xiao-juan Yu,
- Xiao-juan Yu,
- Xiao-juan Yu,
- Xiao-juan Yu,
- Xiao-juan Yu,
- Hui Wang,
- Ya-li Ren,
- Su-xia Wang,
- Xu-jie Zhou,
- Xu-jie Zhou,
- Xu-jie Zhou,
- Xu-jie Zhou,
- Li Yang,
- Li Yang,
- Li Yang,
- Li Yang,
- Hong Zhang,
- Hong Zhang,
- Hong Zhang,
- Hong Zhang
Affiliations
- Meng-shi Li
- Renal Division, Peking University First Hospital, Beijing, China
- Meng-shi Li
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Meng-shi Li
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Meng-shi Li
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Yang Li
- Renal Division, Peking University First Hospital, Beijing, China
- Yang Li
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Yang Li
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Yang Li
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Lei Jiang
- Renal Division, Peking University First Hospital, Beijing, China
- Lei Jiang
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Lei Jiang
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Lei Jiang
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Lei Jiang
- Renal Pathological Center, Institute of Nephrology, Peking University, Beijing, China
- Zhuo-ran Song
- Renal Division, Peking University First Hospital, Beijing, China
- Zhuo-ran Song
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Zhuo-ran Song
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Zhuo-ran Song
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Xiao-juan Yu
- Renal Division, Peking University First Hospital, Beijing, China
- Xiao-juan Yu
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Xiao-juan Yu
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Xiao-juan Yu
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Xiao-juan Yu
- Renal Pathological Center, Institute of Nephrology, Peking University, Beijing, China
- Hui Wang
- Laboratory of Electron Microscopy, Pathological Centre, Peking University First Hospital, Beijing, China
- Ya-li Ren
- Laboratory of Electron Microscopy, Pathological Centre, Peking University First Hospital, Beijing, China
- Su-xia Wang
- Laboratory of Electron Microscopy, Pathological Centre, Peking University First Hospital, Beijing, China
- Xu-jie Zhou
- Renal Division, Peking University First Hospital, Beijing, China
- Xu-jie Zhou
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Xu-jie Zhou
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Xu-jie Zhou
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Li Yang
- Renal Division, Peking University First Hospital, Beijing, China
- Li Yang
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Li Yang
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Li Yang
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- Hong Zhang
- Renal Division, Peking University First Hospital, Beijing, China
- Hong Zhang
- Kidney Genetics Center, Peking University Institute of Nephrology, Beijing, China
- Hong Zhang
- Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China
- Hong Zhang
- Key Laboratory of Chronic Kidney Disease Prevention and Treatment (Peking University), Ministry of Education, Beijing, China
- DOI
- https://doi.org/10.3389/fmed.2022.1077655
- Journal volume & issue
-
Vol. 9
Abstract
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). An autosomal dominant inheritance is the general rule, but de novo UMOD mutations have been reported. It was reported that the median age of ESKD was 47 years (18–87 years) and men were at a much higher risk of progression to ESKD. Here, we reported a 13-year-old young girl with unexplained chronic kidney disease (CKD) (elevated serum creatine) and no positive family history. Non-specific clinical and histological manifestations and the absence of evidence for kidney disease of other etiology raised strong suspicion for ADTKD. Trio whole-exome sequencing confirmed that she carried a de novo heterozygous mutation c.280T > C (p.Cys94Arg) in the UMOD gene. The functional significance of the novel mutation was supported by a structural biology approach. With no targeted therapy, she was treated as CKD and followed up regularly. The case underscores the clinical importance of a gene-based unifying terminology help to identify under-recognized causes of CKD, and it demonstrates the value of whole-exome sequencing in unsolved CKD.
Keywords
