Newborn Screening: Review of its Impact for Cystinosis

Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A Soliman, Rezan Topaloglu, Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A Soliman, Rezan Topaloglu

Abstract

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.

Keywords: CTNS-pathogenic variants; clinical course; infantile nephropathic cystinosis; newborn screening; newborn screening for cystinosis.

Conflict of interest statement

K.H., E.E., N.A.S. and G.N. have no competing interest. G.A. has received honoraria for lectures, presentations, or educational events from Alexion Pharmaceuticals, Recordati Rare Disease, Advicenne, Chiesi, Kyowa Kirim, support for attending meetings from Recordati Rare Disease, Kyowa Kirim, and Advicenne and for participating on Advisory Boards for Alexion Pharmaceuticals, Advicenne, Dicerna, and Alnylam. R.T. has received honorarium for lectures from Recordati and Alnylam.

Figures

Figure 1
Figure 1
Test results and quality parameters in neonatal screening. Sensitivity: Ability of the test to accurately identify those individuals with a specific condition/disease. Specificity: Ability of the test to accurately identify those individuals without the condition/disease. Positive predictive value (PPV): Probability that the person tested has the disease when the test is positive. Negative predictive value: Probability that the person does not have the disease, when the test is negative.

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