| Literature DB >> 23588339 |
Mia Glerup1, Troels Herlin, Søren Rittig, Kirsten Grønbæk, Marianne Hokland, Henrik Hasle.
Abstract
Autoimmune lymphoproliferative syndrome (ALPS) is caused by a nonmalignant defective Fas-mediated apoptosis. The main clinical manifestations are chronic lymphadenopathy, splenomegaly, and autoimmune cytopenia. Most patients with ALPS have a FAS germline mutation. ALPS has occasionally been associated with glomerulonephritis and we present the first report of tubulointerstitial nephritis associated with probable ALPS. A 5-year-old girl presented with fever, vomiting, hypertension, and azotemia. No autoantibodies, viral, or streptococcal antibodies were detected. A renal biopsy showed small-vessel vasculitis with normal glomeruli and inflammation in the interstitium. The patient responded to prednisolone treatment and obtained a full renal recovery. Symptoms of connective tissue disorder supervened and after the development of more pronounced splenomegaly, a diagnosis of ALPS was confirmed.Entities:
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Year: 2013 PMID: 23588339 DOI: 10.1097/MPH.0b013e31828ac9fe
Source DB: PubMed Journal: J Pediatr Hematol Oncol ISSN: 1077-4114 Impact factor: 1.289