Hints to the diagnosis of uromodulin kidney disease.

フォーマット:

論文

責任表示:

Onoe, Tamehito ; Yamada, Kazunori ; Mizushima, Ichiro ; Ito, Kiyoaki ; Kawakami, Takahiro ; Daimon, Shoichiro ; Muramoto, Hiroaki ; Konoshita, Tadashi ; Yamagishi, Masakazu ; Kawano, Mitsuhiro

言語:

英語

出版情報:

European Renal Association / Oxford University Press, 2016-02-01

著者名:

Onoe, Tamehito

Yamada, Kazunori

Mizushima, Ichiro

Ito, Kiyoaki

Kawakami, Takahiro

Daimon, Shoichiro

Muramoto, Hiroaki

Konoshita, Tadashi

Yamagishi, Masakazu

Kawano, Mitsuhiro

続きを見る

掲載情報:

Clinical Kidney Journal

ISSN:

2048-8505      

巻:

9

通号:

1

開始ページ:

69

終了ページ:

75

バージョン:

publisher

概要:

Background: 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. Methods: 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. Results: 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 withUMODA247P mutationwere significantly lower than those of controls. Conclusions: In the present study, UKDwas detected in <1 in 1000 subjects who underwent renal biopsies. However, in subjects meeting all of the above criteria, abnormal THP accumulation was detected in 20% (3/15), suggesting that renal biopsy with immunostaining for THP is a good tool for diagnosing UKD. Also, lowserum THP concentration detected in the present subjects might be a good diagnostic marker or important in understanding the pathogenesis of UKD. © The Author 2015.<br />Publisher's version/PDF on institutional repository or centrally organised repositories 続きを見る

URL:

http://hdl.handle.net/2297/48358