Membranoproliferative glomerulonephritis in a young adult with X-linked agammaglobulinaemia
X-linked agammaglobulinaemia (XLA) is a rare congenital immunodeficiency caused by pathogenic mutations in the Bruton's tyrosine kinase (BTK) gene, characterised by a reduction in mature B cells and low levels of immunoglobulins, which predispose patients to recurrent infections. However, renal involvement in adult XLA patients is extremely rare. Here, we report a man in his early 20s with XLA who experienced recurrent severe infections, resulting in elevated serum creatinine, nephrotic-range proteinuria and haematuria. Laboratory analysis revealed the absence of mature B cells and significantly reduced immunoglobulin levels. A kidney biopsy confirmed a diagnosis of membranoproliferative glomerulonephritis (MPGN), and genetic testing identified a BTK gene mutation. This is a rare case of XLA complicated by MPGN prior to intravenous immunoglobulin therapy, which expands the pathological spectrum of renal involvement.
Authors
- Shi Jin (ORCID: https://orcid.org/0000-0003-0177-5716)
- Xiao Tan (ORCID: https://orcid.org/0000-0001-9499-7646)
- Yiqin Shi (ORCID: https://orcid.org/0000-0001-5436-9100)
- Luna He
- Yi Fang
Institutions
- Fudan University (CN)
- Zhongshan Hospital (CN)
- Hangzhou Medical College (CN)
Publication Details
- Journal
- BMJ Case Reports
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1136/bcr-2025-266136
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00