Abstract:

Renal agenesis and hypodysplasia (RAH) are major congenital anomalies of the kidney and urinary tract that often cause chronic kidney disease in children. Genetic factors are closely related to the pathogenesis of RAH. As whole genome sequencing techniques advance, gene mutations have been increasingly reported to be associated with RAH, among which the association of GREB1L gene mutation with renal dysplasia has been confirmed. We reported a cases of unilateral renal atrophy due to GREB1L gene c.4688A>G heterozygous mutation, and reviewed related literature. The gene mutation of the child originated from his mother, which is a rare variation and has incomplete explicit characteristics, and is assessed to be a harmful mutation by a variety of protein hazard prediction softwares. The new mutation site of GREB1L gene found by us, may expand the gene mutation spectrum and clinical spectrum related to RAH.

Key words: Nephrotic syndrome, GREB1L gene mutation, Renal atrophy, Genetic variation, Child, Case report

摘要：

肾发育不良和肾发育不全（RAH）是先天性肾脏与尿路畸形（CAKUT）的主要表现之一，是导致儿童慢性肾脏病的重要原因。遗传因素与发病密切相关，随着全基因检测技术的发展，越来越多与RAH相关的基因突变被报道，GREB1L基因突变已被证实可导致RAH。本研究报道了1例后天性单侧肾萎缩GREB1L基因c.4688A>G杂合突变患儿，并复习相关文献。该患儿基因突变源自母亲，该变异为罕见变异，并且具有不完全外显特性，多种蛋白质危害预测软件预测该突变为有害变异。本文发现了新的GREB1L基因突变位点，可能拓展了与RAH相关的基因突变谱和临床谱。

关键词: 肾病综合征, GREB1L基因突变, 肾萎缩, 遗传变异, 儿童, 病例报告