家族性尿调蛋白基因突变致儿童肾功能不全的病程。
Childhood course of renal insufficiency in a family with a uromodulin gene mutation.
机构信息
Department of Nephrology and Gastroenterology, Heim Pál Children's Hospital, Budapest, Hungary.
出版信息
Pediatr Nephrol. 2010 Jul;25(7):1355-60. doi: 10.1007/s00467-009-1436-y. Epub 2010 Feb 12.
Abstract
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.
摘要
UMOD 基因突变导致尿调蛋白（Tamm-Horsfall 糖蛋白）的常染色体显性遗传，导致进行性肾功能不全和低尿酸尿高尿酸血症，从而导致年轻时发生痛风。临床表现的特征是青少年后期出现肾功能不全和痛风，终末期肾病通常发生在 40 至 70 岁之间。本报告提供了一个有新的 UMOD 突变（c.891T>G，p.C297W）的一个家庭中的三个孩子的长期肾功能下降的特征，这些孩子接受了别嘌醇和低蛋白饮食。虽然 UMOD 基因突变患者的肾功能下降缓慢，但它可能在生命早期出现，并与明显的高尿酸血症有关。该家族还注意到贫血。
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