A novel FOXP3 mutation in a Chinese child with IPEX‐associated membranous nephropathy

Autor: Liwen Tan, Yunfei An, Qin Yang, Haiping Yang, Gaofu Zhang, Qiu Li, Mo Wang
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Druh dokumentu: article
ISSN: 2324-9269
DOI: 10.1002/mgg3.1945
Popis: Abstract Background Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a monogenic immunodeficiency disease caused by forkhead box protein3 (FOXP3) mutation. The kidney is commonly involved in IPEX syndrome, but there were few studies focusing on renal involvement. Methods Whole‐exome sequencing was used to identify the novel FOXP3 mutation. We collected clinical manifestations, kidney pathology, and gene function of the proband. All the previously published studies with IPEX‐associated renal involvement were reviewed. Results We report a late‐onset Chinese child with IPEX‐associated membranous nephropathy (MN). Type 1 diabetes mellitus and nephrotic‐range proteinuria are the main clinical manifestations. Whole‐exome sequencing shows a novel c.766A > G mutation in the FOXP3 gene. The literature review indicates that renal manifestations include proteinuria, microscopic hematuria, and renal insufficiency. MN is the most common pathological type in children with IPEX, followed by tubulointerstitial nephritis, interstitial nephritis, minimal change nephrotic syndrome, and membranoproliferative glomerulonephritis. Conclusion In summary, we report a novel FOXP3 mutation (c.766A > G) with MN stage II in IPEX. In a literature review, MN is the most common pathological type in children with IPEX and proteinuria is the most prevalent clinical feature. IPEX should be considered in the differential diagnosis of MN patients with related endocrine diseases and immune disorders.
Databáze: Directory of Open Access Journals
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