Work

A case of novel NFKB2 variant with hypertensive emergency and nephrotic syndrome leading to CKD 5D

Year: 2024

Type: article

Abstract: [Background] Nuclear factor kappa B (NF-κB) family plays a central role in human immune system regulation. Heterozygous mutations in NFKB2 typically cause immunodeficiency with various degrees of central adrenal insufficiency, autoimmunity and ectodermal dysplasia. No reported case has presented kidney failure as an initial symptom. Moreover, documentation of kidney involvement of this disease is limited. [Case-Diagnosis] A patient with a novel heterozygous mutation in NFKB2 (c.880del: p. Tyr294Ilefs*4) developed dyspnea and hypertensive emergency as a result of kidney failure. She showed mild hypogammaglobulinemia, but no adrenal insufficiency or ectodermal dysplasia. She is now dependent on peritoneal dialysis and is awaiting kidney transplantation. [Conclusions] Clinical phenotype and penetrance of NFKB2 mutation might vary depending on the mutation site and its effects on NFKB2-signaling pathway. Whether kidney failure is a primary symptom of this variant or secondary to some event remains unknown. Further case accumulation is warranted. (145 words) [Summary - What is new] This is the first reported case of NFKB2 mutation with kidney failure presented as an initial symptom, leading to chronic kidney disease (CKD) G5D.

Source: Pediatric Nephrology

DOI: 10.1007/s00467-024-06334-4

Authors: Toru Nagata, Kenji Nakagawa, Fumitoshi Tsurumi, Ken Watanabe, Tomomi Endo, Atsuko Hata

Institution: Kitano Hospital

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4394570030