Data Collection
We conducted a retrospective analysis of patients undergoing allogeneic
HSCT for MNGIE disease with long-term follow up at a single center. From
July 2005 to June 2016, six patients from 3 consanguineous families with
MNGIE disease were referred to Rambam Health Care Center and all of them
were treated with HSCT. Partial details of patients 1 and 2 have been
previously published. The study was approved by the Institutional Review
Board.
The collected data included age and clinical symptoms at diagnosis, TP
activity, nucleoside serum level, TYMP genotype in the patient
and the HSCT donor, age and clinical status at HSCT, conditioning
regimen and the clinical, biochemical and genetic (chimerism)
consequences post-transplantation, as well as survival and outcome.