3名携带NPHP4基因突变的兄弟姐妹的临床和组织学表现。

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

作者信息

Hoefele Julia, Otto Edgar, Felten Helmut, Kühn Karlwilhelm, Bley Thorsten A, Zäuner Ingeborg, Hildebrandt Friedhelm, Neumann Hartmut P H

机构信息

Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.

出版信息

Am J Kidney Dis. 2004 Feb;43(2):358-64. doi: 10.1053/j.ajkd.2003.10.023.

DOI:10.1053/j.ajkd.2003.10.023

PMID:14750102

Abstract

Nephronophthisis (NPH) is an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial infiltration, and tubular cysts. NPH leads to end-stage renal failure in the first 2 decades of life. Four genes responsible for different types of NPH have been identified: NPHP1, NPHP2, NPHP3, and NPHP4. The NPHP1 gene encodes nephrocystin; NPHP2, inversin; NPHP3, nephrocystin-3; and NPHP4, nephrocystin-4. We report 3 siblings from a consanguineous family with NPH who were previously described as carrying a homozygous mutation in the NPHP4 gene. Renal imaging showed cysts in the children. The histological picture of NPHP4 showed the same characteristic features as those known for NPHP1 and NPHP3. Progression to end-stage renal disease occurred between the ages of 17 and 22 years. None of the renal transplants showed recurrence of the disease. Retinitis pigmentosa was absent in all affected family members.

摘要

肾单位肾痨（NPH）是一种常染色体隐性遗传性肾脏疾病，其特征为肾小管基底膜破坏、间质浸润和肾小管囊肿。NPH在生命的前20年可导致终末期肾衰竭。已确定有四个基因分别导致不同类型的NPH：NPHP1、NPHP2、NPHP3和NPHP4。NPHP1基因编码nephrocystin；NPHP2基因编码inversin；NPHP3基因编码nephrocystin-3；NPHP4基因编码nephrocystin-4。我们报告了一个近亲家庭中的3名患有NPH的兄弟姐妹，他们之前被描述为携带NPHP4基因的纯合突变。肾脏影像学检查显示这些儿童有囊肿。NPHP4的组织学表现与已知的NPHP1和NPHP3具有相同的特征。在17至22岁之间进展为终末期肾病。所有肾移植均未出现疾病复发。所有受影响的家庭成员均无色素性视网膜炎。