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Mannemuddhu SS, Clapp W, Modica R, et al. End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency. Clin Nephrol Case Stud. 2019;7:1-6doi: 10.5414/CNCS109510.
Mannemuddhu, S. S., Clapp, W., Modica, R., Elder, M. E., & Upadhyay, K. (2019). End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency. Clinical nephrology. Case studies, 71-6. https://doi.org/10.5414/CNCS109510
Mannemuddhu, Sai Sudha, et al. "End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency." Clinical nephrology. Case studies vol. 7 (2019): 1-6. doi: https://doi.org/10.5414/CNCS109510
Mannemuddhu SS, Clapp W, Modica R, Elder ME, Upadhyay K. End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency. Clin Nephrol Case Stud. 2019 Feb 01;7:1-6. doi: 10.5414/CNCS109510. eCollection 2019. PMID: 30838168; PMCID: PMC6374989.
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Clin Nephrol Case Stud. 2019 Feb 01;7:1-6. doi: 10.5414/CNCS109510. eCollection 2019.

End-stage renal disease secondary to anti-glomerular basement membrane disease in a child with common variable immunodeficiency.

Clinical nephrology. Case studies

Sai Sudha Mannemuddhu, William Clapp, Renee Modica, Melissa E Elder, Kiran Upadhyay

Affiliations

  1. Division of Pediatric Nephrology, Department of Pediatrics.
  2. Division of Anatomic Pathology, Department of Pathology, and.
  3. Division of Pediatric Allergy, Immunology, Rheumatology, Department of Pediatrics, University of Florida, Gainesville, FL, USA.

PMID: 30838168 PMCID: PMC6374989 DOI: 10.5414/CNCS109510

Abstract

BACKGROUND: Anti-glomerular basement membrane (GBM) disease is caused by autoantibodies against the α3-chain of type IV collagen in the GBM. Common variable immunodeficiency (CVID) is a primary immunodeficiency manifested by hypogammaglobulinemia, inability to make functional antibody, and recurrent infections. This report extends the phenotype of CVID-associated autoimmune diseases to include anti-GBM disease.

CASE PRESENTATION: A 15-year-old Caucasian female with prior normal renal function presented with nephrotic proteinuria, pedal edema, oliguria, acute kidney injury, and was found to have positive serum anti-GBM antibody. She had been diagnosed with CVID at 3 years of age. Her renal biopsy showed crescentic glomerulonephritis (50%), and immunofluorescence showed linear staining for IgG along the glomerular capillary wall. There was no clinical or imaging evidence of pulmonary hemorrhage. She was treated with pulse IV steroids, cyclophosphamide, rituximab, and several sessions of plasmapheresis. Her serum anti-GBM antibody level decreased from 194 U/mL at presentation to 0 U/mL after therapy. However, she progressed to end-stage renal disease (ESRD) within weeks, despite aggressive therapy, and required chronic renal replacement therapy in the form of dialysis. Her clinical course was also complicated by hypertensive encephalopathy, CMV viremia and meningoencephalitis, status epilepticus, and she passed away a few months later from lower respiratory tract complications.

CONCLUSION: Anti-GBM disease is a rare autoimmune condition that has not been reported in association with a primary immunodeficiency syndrome. ESRD secondary to anti-GBM disease in a patient with CVID is an interesting association and supports the role of immune dysregulation in systemic autoimmune disease.

Keywords: anti-glomerular basement membrane antibody; common variable immunodeficiency; end-stage renal disease; rapidly-proliferative glomerulonephritis

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