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

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