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Journals / İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi / 2021 / Cilt: 11 - Sayı: 2

MPS Tip 1 Olgusunda Hematopoetik Kök Hücre Nakli Sonrası Mortal Komplikasyon: Pulmoner Hemoraji

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

Havva YAZICI
Ebru CANDA
Esra ER
Barış MALBORA
Burcu ÖZTÜRK HİSMİ
Hüseyin ONAY
Serap AKSOYLAR
Sema KALKAN UÇAR
Ferda OZKINAY
Mahmut ÇOKER
Pages
198–201
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Pulmoner hemoraji HSCT’ nin nadir bir komplikasyaonu olup, MPS 1 hastalarında nadir olgu sunumları bildirilmiştir.

📌 3 Key Takeaways

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Objective & Hypothesis:Mukopolisakkaridozis tip 1 (MPS 1) “α-L-iduronidase” enzimini kodlayan IDUA geninde mutasyonlardan kaynaklanan bir lizozomal depo hastalığıdır.
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Key Findings & Data:Multisistemik tutulumla karakterizedir.
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Conclusion & Impact:Pulmoner hemoraji HSCT’ nin nadir bir komplikasyaonu olup, MPS 1 hastalarında nadir olgu sunumları bildirilmiştir.
🔬Design:Experimental Field Trial
📍Scope:1 hasta
⚙️Variables:Domain Parameters

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.

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.

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Cite This Article

YAZICI, H., CANDA, E., ER, E., MALBORA, B., HİSMİ, B. Ö., ONAY, H., AKSOYLAR, S., UÇAR, S. K., OZKINAY, F., ÇOKER, M. (2021). MPS Tip 1 Olgusunda Hematopoetik Kök Hücre Nakli Sonrası Mortal Komplikasyon: Pulmoner Hemoraji. İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, Cilt: 11 - Sayı: 2, 198–201. https://ajindex.com/articles/401427

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References (8)

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