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

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YAZICI H., CANDA E., Er E., Malbora B., Hismi B., Onay H., ...Daha Fazla

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, cilt.11, sa.2, ss.198-201, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 2
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5222/buchd.2021.26539
  • Dergi Adı: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.198-201
  • Anahtar Kelimeler: MPS I, HSCT, pulmonary haemorrhage, HURLER-SYNDROME
  • Marmara Üniversitesi Adresli: Evet

Özet

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the "alpha-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.