Novel heterozygous COL4A3 mutation in a family with late-onset ESRD

被引:13
|
作者
Hoefele, Julia [1 ]
Lange-Sperandio, Baerbel [1 ]
Ruessmann, Despina [1 ]
Gloeckner-Pagel, Judith [1 ]
Alberer, Martin [1 ]
Benz, Marcus R. [1 ]
Nagel, Mato [2 ]
Weber, Lutz T. [1 ]
机构
[1] Univ Munich, Dr von Haunersches Kinderspital, Univ Childrens Hosp, D-80337 Munich, Germany
[2] Ctr Nephrol & Metab Disorders, Lab Mol Diagnost, Weisswasser, Germany
关键词
Thin basement membrane nephropathy; Late-onset ESRD; Proteinuria; Hematuria; BASEMENT-MEMBRANE NEPHROPATHY; FOCAL SEGMENTAL GLOMERULOSCLEROSIS; DOMINANT ALPORT-SYNDROME; COLLAGEN GENE; RENAL-FAILURE; DISEASE; IDENTIFICATION; HEMATURIA;
D O I
10.1007/s00467-010-1467-4
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Thin basement membrane nephropathy (TBMN) and Alport syndrome (ATS) are genetically heterogeneous conditions characterized by structural abnormalities in the glomerular basement membrane (GBM). TBMN presents with hematuria, minimal proteinuria, and normal renal function. Although TBMN is an autosomal dominant disease (COL4A3 and COL4A4), ATS can be inherited X-linked (COL4A5), autosomal recessive, or autosomal dominant (both COL4A3 and COL4A4). The clinical course of TBMN is usually benign, whereas ATS typically results in end-stage renal disease (ESRD). Nevertheless, there is a broad spectrum of clinical phenotypes caused by mutations in COL4A3 or COL4A4. We report an Italian family who presented with hematuria and mild proteinuria. Mutational analysis showed a novel heterozygous mutation p.G291E in exon 15 of the COL4A3 gene. Many different mutations in COL4A3 and COL4A4 that cause TBMN have already been identified, but most genetic variability in these genes has been found to cause autosomal ATS. A valid genotype-phenotype correlation for TBMN or ATS is not yet known. Therefore, it is important to identify new mutations by direct sequencing to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy.
引用
收藏
页码:1539 / 1542
页数:4
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