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Review
. 2019 May 8;19(1):145.
doi: 10.1186/s12887-019-1522-7.

UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review

Jing Yang  1 , Yu Zhang  1 , Jianhua Zhou  2
Affiliations
Review

UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review

Jing Yang et al. BMC Pediatr. .

Abstract

Background: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually leads to end-stage renal failure at fiftieth decades. Here, we report a 3-year-old Chinese boy in an ADTKD family caused by a novel UMOD gene mutation.

Case presentation: A 3-year-old boy was admitted to our hospital because of persistent hematuria. Urinalysis showed BLD 2+ without proteinuria. The serum levels of uric acid, creatinine and electrolytes were normal. No renal cyst or calculus was found by ultrasonography. Renal biopsy was performed and focal and segmental glomerulosclerosis was found in 4 glomeruli among 35 glomeruli examined. His father was found with end-stage renal disease (ESRD) at the age of 29, and renal ultrasound showed several cysts in both kidneys. A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was identified by whole exome sequencing in the family. SCBC Genome Browser alignment showed that V550 were highly conserved in uromodulin among different species. Software predicted that the mutation is suspected to be harmful. By literature review, there are 12 mutations of UMOD gene in 14 Chinese families including only one pediatric case(a 16-year-old girl).

Conclusions: A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was found in in a Chinese child case with ADTKD-UMOD, which extends our understanding of UMOD gene mutation spectrum and phenotype of ADTKD-UMOD in children.

Keywords: Autosomal dominant tubulointerstitial kidney disease; ESRD; Gout; Hyperuricemia; UMOD gene mutation.

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Conflict of interest statement

Ethics approval and consent to participate

The study was approved by The Human Ethics Committees of the Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology(TJ-IRB20171113).

Consent for publication

We obtained written informed consent for the publication of this case report, including any identifiable data and images from the parents of the patient.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Light micrograph of two glomeruli from the proband. Arrow indicates a small atrophy glomulus with segmental sclerosis
Fig. 2
Fig. 2
Renal ultrosonograph of the proband’s father. The hyperechogenicity and cysts of different sizes are shown with arrows
Fig. 3
Fig. 3
Sanger sequencing of the proband and his patients. The proband and his father are heterozygous mutation, the site of missense mutation (c.1648G > A, p.V550I) is shown with an arrow
Fig. 4
Fig. 4
Protein sequence alignment of the V550I mutation regions among different species. The mutated valine is highly conserved among different species and highlighted in black frame
See this image and copyright information in PMC

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