Hints to the diagnosis of uromodulin kidney disease

Clinical Kidney Journal
Tamehito OnoeMitsuhiro Kawano

Abstract

Uromodulin kidney disease (UKD) is an inherited kidney disease caused by a uromodulin (UMOD) gene mutation. The UMOD gene encodes the Tamm-Horsfall protein (THP), which is the most abundant protein in healthy human urine. Because of its rarity, the incidence of UKD has not been fully elucidated. The purpose of the present study is to clarify the frequency of UKD among patients who underwent renal biopsy. Immunostaining for THP was performed for patients <50 years of age with renal insufficiency and hyperuricemia without overt urinalysis abnormality from renal biopsy databases. Serum and urinary THP concentrations were evaluated in available individuals. Fifteen patients were selected for immunostaining from a total of 3787 patients. In three independent patients, abnormal THP accumulation in renal tubular cells was observed. A novel missense A247P UMOD mutation was detected in two of the three patients, including one having a typical family history of familial juvenile hyperuricemic nephropathy. Serum and urinary THP concentrations of all available patients with UMOD A247P mutation were significantly lower than those of controls. In the present study, UKD was detected in <1 in 1000 subjects who underwent renal biopsies. However...Continue Reading

References

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Citations

Jan 25, 2018·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Tsai-Hung WuChang-Youh Tsai
Sep 1, 2017·Journal of Hypertension·Andreas LeihererHeinz Drexel
Mar 9, 2021·Seminars in Nephrology·Christopher EstiverneDavid B Mount

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Methods Mentioned

BETA
biopsy
PCR
enzyme-linked immunosorbent assay
biopsies

Software Mentioned

Genemapper

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