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.