A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease
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CASE REPORT
Open Access
A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report Ying Wang1,2, Haibo Liu1,2, Qingnan He1,2, Zhuwen Yi1,2, Yongzhen Li1,2 and Xiqiang Dang1,2*
Abstract Background: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by a pathogenic variant in UMOD (ADTKD-UMOD) is a rare group of diseases characterized by hyperuricaemia with decreased urinary excretion of urate, gout and progressive chronic kidney disease. The mundane clinical characteristics often result in a failure to diagnose ADTKD-UMOD. Case presentation: In this report, we describe a 12-year-old boy who presented with polyarthritis, hyperuricaemia and tophi with a family history of 8 affected individuals. Clinical data, blood and urine samples of 3 affected members and 8 unaffected members were collected. Genetic testing of the eight genes (UMOD, HPRT1, PRPS1, MTHFR, REN, HNF1b, URAT1 and G6PC) was performed using Sanger sequencing. A heterozygous missense variant (c.674C > G; p.T225R) in UMOD was found in this boy, his older brother with the same phenotype and his mother with hyperuricaemia, gout and chronic kidney disease. Conclusion: This case highlights the importance of family history and genetic testing for definite diagnosis. This novel variant extends the spectrum of known UMOD gene variants and further supports the allelic heterogeneity of ADTKD-UMOD. Keywords: Hyperuricaemia, Kidney disease, ADTKD, UMOD
Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD) that was proposed by KDIGO in 2015 [1–4]. It is caused by pathogenic variants in at least 5 different genes: uromodulin (UMOD), mucin 1 (MUC1), hepatocyte nuclear factor 1 beta (HNF1B), renin (REN), and the alpha subunit of the endoplasmic reticular membrane translocon (SEC61A1) and have been categorized as * Correspondence: [email protected] 1 Department of Pediatrics, the Second Xiangya Hospital, Central South University, 139 Renmin Road, Changsha 410011, Hunan, China 2 Laboratory of Pediatric Nephrology, Institute of Pediatrics, Central South University, Changsha, Huan, China
ADTKD-UMOD, ADTKD-MUC1, ADTKD–REN, ADTK D-HNF1B, ADTKD-SEC61A1 or ADTKD-NOS (not otherwise specified), respectively [1–5]. There is no evidence to establish the prevalence of the different types of ADTKD, but ADTKD-UMOD and ADTKD-MUC1 are the most frequently identified forms [1, 2]. Furthermore, among factors differentiating the different forms, hyperuricaemia and gout are more frequent in individuals with ADTKD-UMOD [1, 2]. ADTKD-UMOD was previously named UKD (uromodulin kidney disease), UAKD (uromodulin-associated kidney disease), FJHN (familial juvenile hyperuricaemic nephropathy) and MCKD2 (medullary cystic kidney disease type 2) [2] and is characterized by
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing
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