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2
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Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1295-300. doi: 10.1080/15257770600894766.
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本文引用的文献

1
Multiple loci associated with indices of renal function and chronic kidney disease.多个与肾功能和慢性肾脏病指标相关的基因座。
Nat Genet. 2009 Jun;41(6):712-7. doi: 10.1038/ng.377. Epub 2009 May 10.
2
Tamm-horsfall protein protects against urinary tract infection by proteus mirabilis.Tamm-Horsfall蛋白可抵御奇异变形杆菌引起的尿路感染。
J Urol. 2009 May;181(5):2332-8. doi: 10.1016/j.juro.2009.01.014. Epub 2009 Mar 19.
3
Angiotensin converting enzyme insertion/deletion polymorphism and renoprotection in diabetic and nondiabetic nephropathies.血管紧张素转换酶插入/缺失多态性与糖尿病和非糖尿病肾病中的肾脏保护作用
Clin J Am Soc Nephrol. 2008 Sep;3(5):1511-25. doi: 10.2215/CJN.04140907. Epub 2008 Jun 11.
4
Dietary factors associated with hyperuricemia in adults.与成人高尿酸血症相关的饮食因素。
Semin Arthritis Rheum. 2008 Feb;37(4):243-50. doi: 10.1016/j.semarthrit.2007.04.007. Epub 2007 Jun 14.
5
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.尿调节蛋白C744G突变在儿童和成人中导致MCKD2和FJHN，这可能归因于可能的奠基者效应。
Kidney Int. 2007 Mar;71(6):574-81. doi: 10.1038/sj.ki.5002089. Epub 2007 Jan 24.
6
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?纤毛与中心体：囊性肾病的一个统一致病概念？
Nat Rev Genet. 2005 Dec;6(12):928-40. doi: 10.1038/nrg1727.
7
Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.内质网中突变的Tamm-Horsfall糖蛋白积累诱导细胞凋亡，秋水仙碱和4-苯丁酸钠可逆转这种凋亡。
J Am Soc Nephrol. 2005 Oct;16(10):3006-14. doi: 10.1681/ASN.2005050461. Epub 2005 Aug 31.
8
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.尿调节蛋白疾病中的一种新型突变模式：2型常染色体显性遗传性髓质囊性肾病、家族性青少年高尿酸血症肾病和常染色体显性遗传性肾小球囊性肾病。
Am J Kidney Dis. 2005 Jul;46(1):52-7. doi: 10.1053/j.ajkd.2005.04.003.
9
Uromodulin storage diseases: clinical aspects and mechanisms.尿调蛋白贮积病：临床特征与发病机制
Am J Kidney Dis. 2004 Dec;44(6):987-99. doi: 10.1053/j.ajkd.2004.08.021.
10
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.UMOD基因中的一组突变导致家族性青少年高尿酸血症肾病，并伴有尿调节蛋白的异常表达。
J Am Soc Nephrol. 2003 Nov;14(11):2883-93. doi: 10.1097/01.asn.0000092147.83480.b5.

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.

DOI:10.1007/s00467-009-1436-y
PMID:20151160
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4264542/
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。