1. Newborn Screening: Review of its Impact for Cystinosis
- Author
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Hohenfellner, Katharina, Elenberg, Ewa, Ariceta Iraola, Gema, Nesterova, Galina, Soliman, Neveen A., Topaloglu, Rezan, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Hohenfellner K] Department of Pediatric Nephrology, RoMed Clinis, Rosenheim, Germany. [Elenberg E] Department of Pediatrics, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, USA. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma Barcelona, Bellaterra, Spain. [Nesterova G] Cystinosis Research Network, Medical Advisory Committee, Chicago, IL, USA. [Soliman NA] Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt. [Topaloglu R] Department of Pediatric Nephrology, Hacettepe University School of Medicine, Ankara, Turkey, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
Adult ,Newborn screening ,diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::cribado neonatal [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Cistinosi ,Cysteamine ,Cystinosis ,Infant, Newborn ,Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Neonatal Screening [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis [DISEASES] ,Pilot Projects ,CTNS -pathogenic variants ,General Medicine ,Fanconi Syndrome ,Infantile nephropathic cystinosis ,Neonatal Screening ,Clinical course ,Cribatge (Medicina) ,Humans ,Infants nadons ,Newborn screening for cystinosis ,enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades por almacenamiento lisosómico::cistinosis [ENFERMEDADES] - Abstract
Clinical course; Infantile nephropathic cystinosis; Newborn screening Curso clínico; Cistinosis nefropática infantil; Cribado de recién nacidos Curs clínic; Cistinosi nefropàtica infantil; Cribratge de nounats 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.
- Published
- 2022