A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report.

Case Reports in Genetics Pub Date : 2025-04-28 eCollection Date: 2025-01-01 DOI:10.1155/crig/1453255
Randah Abdullah Dahlan, Roaa Hani Fairoozy
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引用次数: 0

Abstract

Nephronophthisis (NPHP) is a hereditary renal disorder characterized by the progression to end-stage renal disease (ESRD) at a young age. Our understanding of this disorder continues to improve as we identify more genes and gene variants associated with NPHP. In this report, we present a young patient with newly diagnosed advanced renal impairment and a strong family history of ESRD at a young age. The patient's kidney biopsy showed features suggestive of severe chronic interstitial nephritis, along with histopathological findings of advanced renal disease. Genetic testing revealed a novel variant in the IQCB1/NPHP5 gene, which is autosomal recessive. Family genetic analysis revealed that the patient's parents and two of his children are heterozygous for the identified variant, while two siblings with ESRD are homozygous for the IQCB1 p.(Ala486Asp) variant. Unlike previously described mutations in the IQCB1/NPHP5 gene, the patient and his affected siblings do not have retinitis pigmentosa. We report this novel gene variant in a Saudi family, describe its associated clinical features, and present the results of the family segregation analysis.

一个新的NPHP5基因突变在三个兄弟姐妹肾病无视网膜色素变性:1例报告。
肾病(NPHP)是一种遗传性肾脏疾病,其特征是在年轻时进展为终末期肾脏疾病(ESRD)。随着我们发现更多与NPHP相关的基因和基因变异,我们对这种疾病的理解也在不断提高。在本报告中,我们报告了一位年轻的患者,新诊断为晚期肾脏损害,并在年轻时有强烈的ESRD家族史。患者肾活检显示严重慢性间质性肾炎的特征,并伴有晚期肾脏疾病的组织病理学表现。基因检测显示,IQCB1/NPHP5基因存在常染色体隐性变异。家族遗传分析显示,该患者的父母及其两个孩子的iqcb1p (Ala486Asp)变异是杂合的,而患有ESRD的两个兄弟姐妹的iqcb1p (Ala486Asp)变异是纯合的。与先前描述的IQCB1/NPHP5基因突变不同,该患者及其受影响的兄弟姐妹没有视网膜色素变性。我们在一个沙特家族中报告了这种新的基因变异,描述了其相关的临床特征,并提出了家族分离分析的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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