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.
*Department of Pediatrics, Aarhus University Hospital, Skejby
‡Department of Biomedicine, Aarhus University, Aarhus
†Department of Hematology, Rigshospitalet, Copenhagen, Denmark
The authors declare no conflict of interest.
Reprints: Mia Glerup, MD, Department of Pediatrics, Aarhus University Hospital, Brendstrupgaardsvej 100, 8210 Århus N Denmark (e-mail: firstname.lastname@example.org).
Received March 21, 2012
Accepted January 30, 2013