Hints to the diagnosis of uromodulin kidney disease

被引:7
作者
Onoe, Tamehito [1 ]
Yamada, Kazunori [1 ]
Mizushima, Ichiro [1 ]
Ito, Kiyoaki [1 ]
Kawakami, Takahiro [1 ]
Daimon, Shoichiro [2 ]
Muramoto, Hiroaki [3 ]
Konoshita, Tadashi [4 ]
Yamagishi, Masakazu [5 ]
Kawano, Mitsuhiro [1 ]
机构
[1] Kanazawa Univ, Grad Sch Med, Dept Internal Med, Div Rheumatol, Kanazawa, Ishikawa, Japan
[2] Daimon Clin Internal Med Nephrol & Dialysis, Dept Nephrol, Nonoichi, Ishikawa, Japan
[3] Kanazawa Hosp, Japan Community Hlth Care Org, Dept Internal Med, Kanazawa, Ishikawa, Japan
[4] Univ Fukui, Fac Med Sci, Dept Internal Med 3, Eiheiji, Japan
[5] Kanazawa Univ, Grad Sch Med, Dept Internal Med, Div Cardiol, Kanazawa, Ishikawa, Japan
来源
CLINICAL KIDNEY JOURNAL | 2016年 / 9卷 / 01期
关键词
CKD; familial juvenile 2; hyperuricemic nephropathy; kidney biopsy; Tamm-Horsfall protein; uromodulin; TAMM-HORSFALL PROTEIN; UMOD GENE; GLYCOPROTEIN; MUTATIONS; HYPERTENSION; NEPHROPATHY; EXPRESSION; EXCRETION; INJURY; FJHN;
D O I
10.1093/ckj/sfv110
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
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 with UMODA247P mutation were significantly lower than those of controls. Conclusions: In the present study, UKD was 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, low serum THP concentration detected in the present subjects might be a good diagnostic marker or important in understanding the pathogenesis of UKD.
引用
收藏
页码:69 / 75
页数:7
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