The standard treatment for optimal outcome in WAS, is sibling matched BMT before age 5. Unrelated donor BMT, in the absence of a sibling match, may potentially improve the outcome for patients with WAS and ESRD.

Case report.

CJ, a 13 year Native American boy was diagnosed with WAS at 6 months of age. In the absence of a sibling matched donor supportive treatment included monthly IVIG. A splenectomy was preformed for bleeding problems at age 5. At age 12 he developed chronic glomerulonephritis with autosomal polycystic kidney disease that deteriorated to ESRD requiring hemodialysis. Renal transplantation was contemplated, however, BMT was prioritized as opposed to renal transplant to improve viability of the transplanted kidney and to prevent complications of untreated WAS. Since a sibling matched donor was still not available, an unrelated matched non-myeloablative PBSC transplant was done. Within 2 months, he developed host origin, B cell lymphoma requiring aggressive chemotherapy. Nine months after PBSC transplant, he developed severe GVHD of the liver, resulting in death from liver failure and intra-cranial bleeds, 2 months before his 14th birthday.

The median survival of untransplanted splenectomized WAS is 25 years. In the absence of a sibling match, these patients are at risk of complications from WAS and additional conditions like ESRD. Further more, unrelated matched hematopoietic transplantation may not improve the ultimate outcome of complicated WAS with ESRD.