Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis

• Published in: Pediatric nephrology (Berlin, West) Vol. 18; no. 5; pp. 454 - 456
• Main Authors: KANEGANE, Hirokazu, DOS SANTOS VILELA, Maria Marluce, YUE WANG, FUTATANI, Takeshi, MATSUKURA, Hiroyoshi, MIYAWAKI, Toshio
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.05.2003; Springer Nature B.V
• Subjects: Apoptosis; Autoimmune Diseases - complications; Autoimmune Diseases - genetics; Autoimmune Diseases - pathology; Biological and medical sciences; Brazil; Child; fas Receptor - genetics; Glomerulonephritis; Glomerulonephritis - complications; Glomerulonephritis - genetics; Glomerulonephritis - pathology; Humans; Lymphoproliferative Disorders - complications; Lymphoproliferative Disorders - genetics; Lymphoproliferative Disorders - pathology; Male; Medical sciences; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Point Mutation; Human; Kidney disease; Glomerulonephritis; Corticosteroid; Urinary system disease; Autoimmune disease; Male; Malignant hemopathy; Case study; Chemotherapy; Association; Treatment; Autoimmune lymphoproliferative syndrome; Gene; Cell death; Lymphoproliferative syndrome; Brazil; Fas; Mutation; Child; Apoptosis
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-003-1087-3

Autoimmune lymphoproliferative syndrome (ALPS) is characterized clinically by chronic non-malignant lymphoproliferation and autoimmunity and is caused by a genetic defect in programmed cell death (apoptosis). Most patients with ALPS have heterozygous mutations in the Fas gene. We describe an 11-year-old Brazilian boy with hepatosplenomegaly, lymphadenopathy, hemolytic anemia, and hypergammaglobulinemia since early infancy. T cell lines from the patient were defective in Fas-mediated apoptosis. He was diagnosed as having ALPS and found to have a novel Fas gene mutation (IVS4+1G>A). In addition, he presented with glomerulonephritis in infancy. An aunt and uncle who had the same Fas mutations also had histories of glomerulonephritis. Although glomerulonephritis is common in Fas-deficient mice, it is infrequent in human ALPS. Corticosteroid therapy ameliorated the glomerulonephritis in our patient, as well as his lymphoproliferation, anemia, and hypergammaglobulinemia. This study suggests that glomerulonephritis is one of the characteristic features of ALPS.