A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report

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 clinica...

Full description

Bibliographic Details
Main Authors:	Ying Wang, Haibo Liu, Qingnan He, Zhuwen Yi, Yongzhen Li, Xiqiang Dang
Format:	Article
Language:	English
Published:	BMC 2020-08-01
Series:	BMC Nephrology
Subjects:	Hyperuricaemia Kidney disease ADTKD UMOD
Online Access:	http://link.springer.com/article/10.1186/s12882-020-02022-1

id	doaj-a7ba146bac3047f6b84bfe74d389e9ef
record_format	Article
spelling	doaj-a7ba146bac3047f6b84bfe74d389e9ef2020-11-25T03:49:25ZengBMCBMC Nephrology1471-23692020-08-012111510.1186/s12882-020-02022-1A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case reportYing Wang0Haibo Liu1Qingnan He2Zhuwen Yi3Yongzhen Li4Xiqiang Dang5Department of Pediatrics, the Second Xiangya Hospital, Central South UniversityDepartment of Pediatrics, the Second Xiangya Hospital, Central South UniversityDepartment of Pediatrics, the Second Xiangya Hospital, Central South UniversityDepartment of Pediatrics, the Second Xiangya Hospital, Central South UniversityDepartment of Pediatrics, the Second Xiangya Hospital, Central South UniversityDepartment of Pediatrics, the Second Xiangya Hospital, Central South UniversityAbstract 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.http://link.springer.com/article/10.1186/s12882-020-02022-1HyperuricaemiaKidney diseaseADTKDUMOD
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Ying Wang Haibo Liu Qingnan He Zhuwen Yi Yongzhen Li Xiqiang Dang
spellingShingle	Ying Wang Haibo Liu Qingnan He Zhuwen Yi Yongzhen Li Xiqiang Dang A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report BMC Nephrology Hyperuricaemia Kidney disease ADTKD UMOD
author_facet	Ying Wang Haibo Liu Qingnan He Zhuwen Yi Yongzhen Li Xiqiang Dang
author_sort	Ying Wang
title	A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
title_short	A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
title_full	A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
title_fullStr	A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
title_full_unstemmed	A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
title_sort	novel likely pathogenic variant in the umod gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
publisher	BMC
series	BMC Nephrology
issn	1471-2369
publishDate	2020-08-01
description	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.
topic	Hyperuricaemia Kidney disease ADTKD UMOD
url	http://link.springer.com/article/10.1186/s12882-020-02022-1
work_keys_str_mv	AT yingwang anovellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT haiboliu anovellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT qingnanhe anovellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT zhuwenyi anovellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT yongzhenli anovellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT xiqiangdang anovellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT yingwang novellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT haiboliu novellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT qingnanhe novellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT zhuwenyi novellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT yongzhenli novellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport AT xiqiangdang novellikelypathogenicvariantintheumodgeneinafamilywithautosomaldominanttubulointerstitialkidneydiseaseacasereport
_version_	1724495664485761024

A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report

Similar Items