Yapay Zeka Hızlı Bakış & Çıkarımlar
AI InsightPulmonary 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.
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Özet
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.
Abstract
Mukopolisakkaridozis tip 1 (MPS 1) “α-L-iduronidase” enzimini kodlayan IDUA geninde mutasyonlardan kaynaklanan bir lizozomal depo hastalığıdır. Multisistemik tutulumla karakterizedir. Enzim replasman tedavisi ve hematopoetik kök hücre nakli olmak üzere iki güncel tedavi yöntemi mevcuttur. Pulmoner hemoraji HSCT’ nin nadir bir komplikasyaonu olup, MPS 1 hastalarında nadir olgu sunumları bildirilmiştir.