Open AccessA novel FOXP3 mutation in a Chinese child with IPEX ‐associated membranous nephropathy
Author(s) -
Tan Liwen,
An Yunfei,
Yang Qin,
Yang Haiping,
Zhang Gaofu,
Li Qiu,
Wang Mo
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1945
Subject(s) - medicine , immune dysregulation , nephrotic syndrome , membranous nephropathy , lupus nephritis , nephropathy , immunology , renal biopsy , proteinuria , exome sequencing , mutation , renal function , disease , diabetes mellitus , kidney , endocrinology , genetics , biology , gene
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.