Newborn Screening : Review of its Impact for Cystinosis
Hohenfellner, Katharina (RoMed Clinis)
Elenberg, Ewa (Texas Children's Hospital)
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron)
Nesterova, Galina (Cystinosis Research Network, Medical Advisory Committee (Estats Units d'Amèrica))
Soliman, Neveen A. (Cairo University)
Topaloglu, Rezan (Hacettepe University School of Medicine)
Universitat Autònoma de Barcelona

Fecha:	2022
Resumen:	Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected at an early stage using appropriate diagnostics, the introduction of a new target disease requires a detailed analysis of the entire screening process, including a robust scientific background, analytics, information technology, and logistics. In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated at a higher level than its potential harm. Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic disorder. With the introduction of cysteamine therapy in the early 1980s and the possibility of renal replacement therapy in infancy, patients with cystinosis can now reach adulthood. Early diagnosis of cystinosis remains important as this enables initiation of cysteamine at the earliest opportunity to support renal and patient survival. Using molecular technologies, the feasibility of screening for cystinosis has been demonstrated in a pilot project. This review aims to provide insight into NBS and discuss its importance for nephropathic cystinosis using molecular technologies.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Newborn screening ; Infantile nephropathic cystinosis ; Clinical course ; CTNS -pathogenic variants ; Newborn screening for cystinosis
Publicado en:	Cells, Vol. 11 (march 2022) , ISSN 2073-4409

DOI: 10.3390/cells11071109
PMID: 35406673

12 p, 501.0 KB

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