Li Guangbo, Su Dequan, Liu Cuihua, Cao Guanghai, Zhan Zhuqin, Liao Jianying
Department of Nephrology, Fudan University Affiliated Children's Hospital Xiamen Hospital (Xiamen Children's Hospital), Xiamen, China.
Nephrology Department, Henan Provincial Children's Hospital, Henan, China.
Front Med (Lausanne). 2024 Oct 2;11:1437881. doi: 10.3389/fmed.2024.1437881. eCollection 2024.
To report a case of steroid-resistant nephrotic syndrome caused by a gene mutation, examine the associated literature, outline the clinical and genetic features of Pierson syndrome, and deepen the clinical comprehension of this condition.
The study involved retrospective summary and analysis of the clinical presentations, genetic mutation features, and prognosis of one case involving a gene mutation. PubMed, Medline, Web of Science, CNKI, and Wanfang databases were searched to gather and summarize information on the pathological phenotypes and genotypic alterations associated with mutations.
A 9-month-old infant presented with edema and massive proteinuria, along with horizontal nystagmus and miosis, manifesting clinically as steroid-resistant nephrotic syndrome. Ocular symptoms prompted both a kidney biopsy and genetic testing. The biopsy revealed minimal change disease, while genetic testing identified compound heterozygous mutations in the gene: c.1405C > T (p.R469X) and c.1066 T > A (p.C356S), inherited from the father and mother, respectively. These mutations were determined to be novel. The diagnosis was confirmed as a gene mutation. A literature review of 26 cases with mutations indicated these typically presented as steroid-resistant or congenital nephrotic syndrome, with 14 cases also displaying ocular symptoms. Among the 18 cases undergoing kidney biopsy, findings included focal segmental glomerulosclerosis in 10 cases, minimal change disease in 4 cases, diffuse mesangial sclerosis in 2 cases, IgM nephropathy in 1 case, and mesangial proliferation in 1 case. Electron microscopy in 10 cases showed basement membrane splitting. Genetic analysis revealed 15 cases with compound heterozygous mutations, 5 with homozygous mutations, 3 with heterozygous mutations, 2 with frame-shift mutations, and 1 with a truncating mutation. 16 out of the 26 reported cases progressed to end-stage kidney disease.
Mutations in the gene primarily manifest as steroid-resistant or congenital nephrotic syndrome, often accompanied by ocular abnormalities, suggesting a strong likelihood of this disease. The results of genetic testing offer a foundational basis for clinical diagnosis. The identification of a new mutation site in this case expands the known spectrum of mutations in the gene. Unfortunately, the prognosis associated with this condition is generally poor.
报告1例由基因突变引起的类固醇抵抗型肾病综合征病例，查阅相关文献，概述皮尔逊综合征的临床和遗传特征，加深对该疾病的临床理解。
本研究对1例基因突变病例的临床表现、基因突变特征及预后进行回顾性总结分析。检索PubMed、Medline、Web of Science、中国知网和万方数据库，收集并总结与突变相关的病理表型和基因改变信息。
1名9个月大的婴儿出现水肿和大量蛋白尿，伴有水平性眼球震颤和瞳孔缩小，临床诊断为类固醇抵抗型肾病综合征。眼部症状促使进行肾活检和基因检测。肾活检显示为微小病变病，而基因检测发现该基因存在复合杂合突变：c.1405C＞T（p.R469X）和c.1066T＞A（p.C356S），分别遗传自父亲和母亲。这些突变被确定为新发现的突变。确诊为基因突变。对26例有突变的病例进行文献回顾表明，这些病例通常表现为类固醇抵抗型或先天性肾病综合征，其中14例还伴有眼部症状。在18例行肾活检的病例中，结果包括局灶节段性肾小球硬化10例、微小病变病4例、弥漫性系膜硬化2例、IgM肾病1例、系膜增生1例。10例电子显微镜检查显示基底膜分裂。基因分析显示15例为复合杂合突变、5例为纯合突变、3例为杂合突变、2例为移码突变、1例为截短突变。26例报告病例中有16例进展为终末期肾病。
基因的突变主要表现为类固醇抵抗型或先天性肾病综合征，常伴有眼部异常，提示该病可能性较大。基因检测结果为临床诊断提供了基础依据。本病例中新突变位点的发现扩展了基因已知的突变谱。遗憾的是，该疾病的预后通常较差。
