Transplantation, outcome and long-term follow-up
Transplant characteristics, including age at transplant, donor type andTYMP genotype, graft source, number of cells (total nucleated cells(TNC)/CD34), conditioning protocol, chimerism, biochemical correction (deoxyuridine/thymidine levels) post HSCT and outcome are described in the text in detail and summarized in Table 2. Median follow up of patients alive at discharge from HSCT was 5.5 years, ranging from over 15 years for our first patient to 4 years for the last transplanted patient.
Tables 3 and 4 summarize a literature review of HSCT for MNGIE patients below and above 20 years of age, respectively. The literature review was conducted using the National Library of Medicine’s PubMed database through 2019, using the keyword MNGIE with particular interest in HSCT.