Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia.
Wiskott-Aldrich syndrome (WAS) is caused by a mutation in the WAS gene, and it is clinically characterized by the triad of thrombocytopenia, eczema and immunodeficiency. X-linked thrombocytopenia (XLT), which is a clinically mild form of WAS, is also caused by a WAS gene mutation. Patients with WAS/XLT sometimes also have autoimmune diseases such as IgA nephropathy. Progression of IgA nephropathy may lead to chronic renal failure with a poor prognosis. Here, we describe an XLT patient who also had IgA nephropathy. The patient underwent bone marrow transplantation (BMT) because of an associated-lymphoproliferative disorder, and clinical and histological improvement in his IgA nephropathy was observed after BMT. The amount of galactose-deficient IgA in the patient's serum markedly decreased after BMT. Therefore, immunological reconstitution might improve autoimmune diseases in patients with WAS/XLT.
Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.
Akihiro
A
Hoshino
Masaki
M
Shimizu
Hiroyoshi
H
Matsukura
Hisano
H
Sakaki-Nakatsubo
Keiko
K
Nomura
Toshio
T
Miyawaki
Hirokazu
H
Kanegane
D001706:Biopsy; D016026:Bone Marrow Transplantation; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D005922:Glomerulonephritis, IGA / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007668:Kidney / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D013921:Thrombocytopenia / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D055815:Young Adult
D007070:Immunoglobulin A