Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience

Stepien, Karolina M.; Treacy, Max; Katiri, Roulla; Treacy, Eileen P.; Pastores, Gregory; Sheerin, Alison; Brosnahan, Donal; Crushell, Ellen; OByrne, James J.

Stepien, Karolina M.; Treacy, Max; Katiri, Roulla; Treacy, Eileen P.; Pastores, Gregory; Sheerin, Alison; Brosnahan, Donal; Crushell, Ellen; OByrne, James J..

Afiliação

Stepien, Karolina M.; Northern Care Alliance NHS Foundation Trust. Salford Royal Organisation. Adult Inherited Metabolic Disorders. Salford. GB
Treacy, Max; Royal Victoria Eye and Ear Hospital. Eye Department. Dublin. IE
Katiri, Roulla; The Mater Misericordia University Hospital. Audiology Department. Dublin. IE
Treacy, Eileen P.; The Mater Misericordia University Hospital. National Centre for Inherited Metabolic Disorders. Dublin. IE
Pastores, Gregory; The Mater Misericordia University Hospital. National Centre for Inherited Metabolic Disorders. Dublin. IE
Sheerin, Alison; The Mater Misericordia University Hospital. National Centre for Inherited Metabolic Disorders. Dublin. IE
Brosnahan, Donal; Royal Victoria Eye and Ear Hospital. Eye Department. Dublin. IE
Crushell, Ellen; National Centre for Inherited Metabolic Disorders. Childrens Health Ireland at Temple St and Crumlin. Dublin. IE
OByrne, James J.; The Mater Misericordia University Hospital. National Centre for Inherited Metabolic Disorders. Dublin. IE

J. inborn errors metab. screen ; 12: e20230016, 2024. tab

Article em En | LILACS-Express | LILACS | ID: biblio-1564743

Biblioteca responsável: BR1.1

Localização: 2326-4594-jiems-12-e20230016.xml

ABSTRACT

ABSTRACT

Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase (IDUA), which is necessary for the degradation of glycosaminoglycans (GAGs). This study outlines the long-term outcomes in adult Irish patients affected with MPS IH, who were followed up for mean 28 years post Haematopoietic Stem Cell Transplantation. Nineteen adult MPS IH patients underwent HSCT in childhood. The participant cohort represents 6 families. Among the 13 patients with Irish Traveller ethnicity, 6 patients were either siblings or first cousins. All these related patients were homozygous for p. Trp402Ter (W402X). Mean age at the first transplantation was 8 months (range 3-21). Five patients had undergone a second transplantation (n=5, 26%) in childhood, due to graft failure. None of the patients had a cardiac valve surgery at the time of the study. 14/19 patients had mild to moderate aortic or mitral valve insufficiency or stenosis. 3/19 patients used non-invasive ventilation at night. Two patients had tracheostomy in situ. Both sensorineural as well as conductive hearing defects. No corneal clouding post corneal transplantation (n=8) was observed. Six patients attended regular secondary school. Multidisciplinary follow-up is needed to address the disease specific complications in adulthood.

Palavras-chave

Haematopoietic stem cell transplantation; Hurler syndrome; MPS IH; Mucopolysaccharidosis type I; long-term outcomes

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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Idioma: En Revista: J. inborn errors metab. screen Assunto da revista: Medicina Cl¡nica / Patologia Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Irlanda / Reino Unido País de publicação: Brasil

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