A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report
Autor: | Zhu-Wen Yi, Qing-Nan He, Ying Wang, Xiqiang Dang, Yongzhen Li, Haibo Liu |
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Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
Nephrology
Male medicine.medical_specialty Gout 030232 urology & nephrology Mutation Missense Mothers Case Report Hyperuricemia 030204 cardiovascular system & hematology lcsh:RC870-923 Kidney UMOD 03 medical and health sciences 0302 clinical medicine Internal medicine Uromodulin medicine Missense mutation Humans Family history Child Genetic testing Genetics medicine.diagnostic_test ADTKD business.industry Arthritis Siblings Kidney disease lcsh:Diseases of the genitourinary system. Urology medicine.disease HNF1B Nephritis Interstitial Allelic heterogeneity Female business Hyperuricaemia |
Zdroj: | BMC Nephrology BMC Nephrology, Vol 21, Iss 1, Pp 1-5 (2020) |
ISSN: | 1471-2369 |
Popis: | 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. |
Databáze: | OpenAIRE |
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