I型唾液酸沉积症的造血细胞移植
Hematopoietic cell transplantation for sialidosis type I.
作者信息
Gupta Ashish O, Patterson Marc C, Wood Tim, Eisengart Julie B, Orchard Paul J, Lund Troy C
机构信息
Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, United States of America.
Division of Child and Adolescent Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
出版信息
Mol Genet Metab Rep. 2021 Dec 8;30:100832. doi: 10.1016/j.ymgmr.2021.100832. eCollection 2022 Mar.
We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT.
我们报告了一名接受骨髓移植（BMT）的I型唾液酸沉积症青春期女性的临床和实验室随访数据。骨髓移植后，血浆和尿液生物标志物随植入同时发生反应。神经精神病学数据显示某些领域功能得以保留，但她的运动表现总体下降。唾液酸沉积症是一种非常罕见的溶酶体疾病，我们认为这是首例关于I型唾液酸沉积症患者接受骨髓移植的报告。
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