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A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzyme replacement therapy and haematopoietic...

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Bibliographic Details
Main Authors: Havva Yazıcı (Author), Ebru Canda (Author), Esra Er (Author), Baris Malbora (Author), Burcu Ozturk Hismi (Author), Huseyin Onay (Author), Serap Aksoylar (Author), Sema Kalkan Uçar (Author), Ferda Ozkinay (Author), Mahmut Çoker (Author)
Format: Book
Published: Galenos Publishing House, 2021-08-01T00:00:00Z.
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Summary:Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzyme replacement therapy and haematopoietic stem cell transplantation (HSCT). Pulmonary haemorrhage (PH) is a rare complication of HSCT and the case was presented with the reason that the related reports were few in MPS I.
Item Description:2822-4469
10.5222/buchd.2021.26539

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