Childhood course of renal insufficiency in a family with a uromodulin gene mutation

被引：15

作者：

Schaffer, Peter ^{[4
]}

Gombos, Eva ^{[4
]}

Meichelbeck, Krisztina ^{[4
]}

Kiss, Andras ^{[3
]}

Hart, P. Suzanne ^{[2
]}

Bleyer, Anthony J. ^{[1
]}

机构：

[1] Wake Forest Univ, Sch Med, Nephrol Sect, Winston Salem, NC 27157 USA

[2] NHGRI, NIH, Human Genome Project, Bethesda, MD 20892 USA

[3] Heim Pal Childrens Hosp, Dept Urol, Budapest, Hungary

[4] Heim Pal Childrens Hosp, Dept Nephrol & Gastroenterol, Budapest, Hungary

来源：

PEDIATRIC NEPHROLOGY | 2010年 / 25卷 / 07期

关键词：

Childhood; Children; Chronic renal failure; Autosomal dominant; Hyperuricemia; Interstitial kidney; Familial juvenile hyperuricemic nephropathy; Medullary cystic kidney disease; Uromodulin; Uromodulin-associated kidney disease; TAMM-HORSFALL GLYCOPROTEIN; JUVENILE HYPERURICEMIC NEPHROPATHY; KIDNEY-DISEASE; UMOD GENE; NEPHRONOPHTHISIS; ALLOPURINOL; PROGRESSION; CLUSTER; TYPE-2; FJHN;

D O I：

10.1007/s00467-009-1436-y

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Mutations in the UMOD gene encoding uromodulin (Tamm-Horsfall glycoprotein) result in the autosomal dominant transmission of progressive renal insufficiency and hypo-uricosuric hyperuricemia leading to gout at an early age. The clinical appearance is characterized by renal insufficiency and gout occurring in the late teenage years, with end-stage kidney disease characteristically developing between 40 and 70 years of age. This report provides a long-term characterization of renal functional decline in three children from one family with a novel UMOD mutation (c.891T > G, p.C297W) who received allopurinol and a low protein diet. While renal functional decline is slow in individuals with UMOD mutations, it may appear early in life and be associated with marked hyperuricemia. Anemia was also noted in this family.

引用

页码：1355 / 1360

页数：6

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