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Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta
Author(s) -
Shibazaki Takumi,
Hirabayashi Koichi,
Saito Shoji,
Shigemura Tomonari,
Nakazawa Yozo,
Sakashita Kazuo,
Takagi Mineo,
Shiohara Masaaki,
Adachi Kaori,
Nanba Eiji,
Sakai Norio,
Koike Kenichi
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37563
Subject(s) - medicine , mucolipidosis , transplantation , hematopoietic stem cell transplantation , umbilical cord , cord blood , gastroenterology , total body irradiation , fludarabine , cyclophosphamide , immunology , chemotherapy , biology , biochemistry , enzyme
Mucolipidosis (ML) II alpha/beta is an autosomal recessive disease caused by reduced enzyme activity of N‐acetylglucosamine‐1‐phosphotransferase. Clinical symptoms of ML II are severe psychomotor delay and dysostosis multiplex; death usually occurs by 5–8 years of age from cardiopulmonary complications. Allogeneic hematopoietic stem cell transplantation (HSCT) has been attempted for ML; however, few reports have documented the detailed outcomes of HSCT for ML. A 26‐month‐old girl received a human leukocyte antigen 3/6‐allele‐matched transplant from cord blood. The preparative regimen consisted of fludarabine, cyclophosphamide, 6‐Gy total body irradiation, and rabbit antithymocyte globulin. Although comparing before and after cord blood transplantation results, we observed that lysosomal enzyme activities in the plasma decreased by approximately 20–40%. Low serum levels of immunoglobulin A, G2, and G4 were also observed before HSCT; however, these values normalized after transplantation. Despite undergoing HSCT, she was treated twice for bacterial pneumonia with acute respiratory distress syndrome at ages 37 and 38 months. Although HSCT effects on the clinical manifestations were limited, laboratory data including plasma lysosomal enzyme activities and serum levels of immunoglobulin showed improvement. © 2016 Wiley Periodicals, Inc.