17d0f5f22bafad3619bb6477d16ee31d pmc_8997957.pdf 56540deb7a32e751227972473fbf52e6aa6a6de9 pmc_8997957.pdf 614eb5627acc94b309c056aa2601c2eadd098b44cb63223be69fd0dfe18ad7cb pmc_8997957.pdf Title: Newborn Screening: Review of its Impact for Cystinosis Subject: 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: newborn screening; infantile nephropathic cystinosis; clinical course; CTNS-pathogenic variants; newborn screening for cystinosis Author: Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman and Rezan Topaloglu Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Wed Apr 6 04:11:15 2022 CEST ModDate: Wed Apr 6 04:17:01 2022 CEST Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 12 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 512997 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- HBIFWE+URWPalladioL-Bold Type 1 Custom yes yes no 10 0 MQOFYD+URWPalladioL-Roma Type 1 Custom yes yes no 15 0 EKZQOQ+URWPalladioL-Ital Type 1 Custom yes yes no 19 0 MCBCCI+SourceSansRoman-Regular Type 1C Custom yes yes no 27 0 MCBCCM+SourceSansRoman.613wght Type 1C Custom yes yes no 31 0 MCBCCO+SourceSansRoman-Bold Type 1C Custom yes yes no 35 0 PFKOHU+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 47 0 AALMAP+PalatinoLinotype,Bold TrueType WinAnsi yes yes no 75 0 AALMBB+PalatinoLinotype TrueType WinAnsi yes yes no 78 0 AALMBD+PalatinoLinotype,Italic TrueType WinAnsi yes yes no 81 0 AALOAI+Arial,Bold CID TrueType Identity-H yes yes yes 84 0 AALOBI+Arial CID TrueType Identity-H yes yes yes 90 0 AALOBJ+Calibri CID TrueType Identity-H yes yes yes 96 0 PDTLUH+CMSY10 Type 1 Builtin yes yes no 108 0 DQAWKJ+VnURWPalladioL Type 1 Custom yes yes no 127 0 CRUZTT+VnURWPalladioL-Italic Type 1 Custom yes yes no 135 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2022-05-25 02:27:49 CEST RepresentationInformation: pmc_8997957.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2022-04-26 17:56:00 CEST Size: 512997 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 411 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4923ab24 Item: Title: Cystinosis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@44c8afef Item: Title: Prenatal Testing and Preimplantation Genetic Diagnosis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b69c6ba Item: Title: CTNS Pathogenic Variants in Different Countries Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@46daef40 Item: Title: Newborn Screening for Cystinosis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12f41634 Item: Title: Conclusions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@13c27452 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@262b2c86 Info: Title: Newborn Screening: Review of its Impact for Cystinosis Author: Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman and Rezan Topaloglu Subject: 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. 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