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.

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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
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article

Membranoproliferative glomerulonephritis in a young adult with X-linked agammaglobulinaemia

Shi Jin, Xiao Tan, Yiqin Shi, Luna He et al.
BMJ Case Reports
Immunodeficiency and Autoimmune Disorders
article

Membranoproliferative glomerulonephritis in a young adult with X-linked agammaglobulinaemia

Shi Jin, Xiao Tan, Yiqin Shi, Luna He, Yi Fang
article en

Abstract

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.

BMJ Case ReportsVol. 18(10)
Fudan University (CN), Zhongshan Hospital (CN), Hangzhou Medical College (CN)
Openalex Percentile: Top 68%
Immunodeficiency and Autoimmune Disorders
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