دورية أكاديمية
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
العنوان: | Newborn screening for Pompe disease in Italy: Long-term results and future challenges. |
---|---|
المؤلفون: | Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Pijnappel PWWM; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands., Burlina AP; Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy., In 't Groen SLM; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands., Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Maines E; Division of Pediatrics, S. Chiara General Hospital, Trento, Italy., Polo G; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padova, Italy., Di Salvo G; Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital Padua, Padua, Italy., Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy. |
المصدر: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Oct 22; Vol. 33, pp. 100929. Date of Electronic Publication: 2022 Oct 22 (Print Publication: 2022). |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE |
أسماء مطبوعة: | Original Publication: [New York, NY] : Elsevier Inc., [2014]- |
مستخلص: | Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and better outcomes, especially with more severe forms. We present results from 7 years of NBS for PD and the management of infantile-onset (IOPD) and late-onset (LOPD) patients, during which we sought candidate predictive parameters of phenotype severity at baseline and during follow-up. We used a tandem mass spectrometry assay for α-glucosidase activity to screen 206,741 newborns and identified 39 positive neonates (0.019%). Eleven had two pathogenic variants of the GAA gene (3 IOPD, 8 LOPD); six carried variants of uncertain significance (VUS). IOPD patients were treated promptly and had good outcomes. LOPD and infants with VUS were followed; all were asymptomatic at the last visit (mean age 3.4 years, range 0.5-5.5). Urinary glucose tetrasaccharide was a useful and biomarker for rapidly differentiating IOPD from LOPD and monitoring response to therapy during follow-up. Our study, the largest reported to date in Europe, presents data from longstanding NBS for PD, revealing an incidence in North East Italy of 1/18,795 (IOPD 1/68,914; LOPD 1/25,843), and the absence of mortality in IOPD treated from birth. In LOPD, rigorous long-term follow-up is needed to evaluate the best time to start therapy. The high pseudodeficiency frequency, ethical issues with early LOPD diagnosis, and difficulty predicting phenotypes based on biochemical parameters and genotypes, especially in LOPD, need further study. Competing Interests: The authors declare no conflict of interest. (© 2022 Published by Elsevier Inc.) |
References: | Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. (PMID: 22252989) J Pediatr. 2002 Mar;140(3):321-7. (PMID: 11953730) Pediatr Rev. 2009 May;30(5):193-4. (PMID: 19411339) Orphanet J Rare Dis. 2019 Mar 22;14(1):71. (PMID: 30902109) Genet Med. 2020 May;22(5):898-907. (PMID: 31904026) BMC Pediatr. 2014 Aug 14;14:203. (PMID: 25124044) Hum Mutat. 2021 Nov;42(11):1461-1472. (PMID: 34405923) Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. (PMID: 22820396) JIMD Rep. 2017;31:79-83. (PMID: 27142047) Orphanet J Rare Dis. 2012 Mar 14;7:15. (PMID: 22413814) PLoS One. 2013 Jun 25;8(6):e67052. (PMID: 23825616) Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. (PMID: 32071926) Genet Med. 2021 May;23(5):845-855. (PMID: 33495531) Pediatrics. 2017 Jul;140(Suppl 1):S24-S45. (PMID: 29162675) Mol Genet Metab. 2016 Sep;119(1-2):109-14. (PMID: 27591925) J Pediatr. 2016 Feb;169:174-80.e1. (PMID: 26685070) Genet Med. 2019 Mar;21(3):631-640. (PMID: 30093709) Genet Med. 2018 Aug;20(8):840-846. (PMID: 29095812) Mol Genet Metab. 2017 May;121(1):16-21. (PMID: 28302345) Int J Neonatal Screen. 2020 Feb 07;6(1):9. (PMID: 33073007) Genet Med. 2011 May;13(5):457-84. (PMID: 21502868) Am J Hum Genet. 1995 Apr;56(4):887-97. (PMID: 7717400) Orphanet J Rare Dis. 2012 Jun 07;7:35. (PMID: 22676651) J Inherit Metab Dis. 2016 May;39(3):383-390. (PMID: 26768149) EBioMedicine. 2019 May;43:553-561. (PMID: 30922962) J Pediatr. 2018 Apr;195:236-243.e3. (PMID: 29428273) Int J Neonatal Screen. 2020 Aug 14;6(3):. (PMID: 33239591) Pediatr Res. 2009 Sep;66(3):329-35. (PMID: 19542901) J Pediatr. 2017 Nov;190:130-135. (PMID: 28728811) Int J Neonatal Screen. 2020 Apr 05;6(2):31. (PMID: 33073027) Mol Genet Metab. 2010 Apr;99(4):379-83. (PMID: 20080426) Neurology. 2012 May 8;78(19):1512-8. (PMID: 22539577) J Pediatr. 2022 May;244:139-147.e2. (PMID: 34995642) Pediatrics. 2008 Jul;122(1):e39-45. (PMID: 18519449) Pediatr Res. 2006 Sep;60(3):349-52. (PMID: 16857770) Int J Neonatal Screen. 2018 Dec 18;4(4):41. (PMID: 33072961) Ital J Pediatr. 2022 Mar 5;48(1):41. (PMID: 35248118) Int J Neonatal Screen. 2020 Mar;6(1):. (PMID: 32064362) Dev Med Child Neurol. 2018 Jun;60(6):579-586. (PMID: 29573408) Mol Genet Metab. 2016 Aug;118(4):304-9. (PMID: 27238910) J Biol Chem. 2005 Feb 25;280(8):6780-91. (PMID: 15520017) J Inherit Metab Dis. 2018 Mar;41(2):209-219. (PMID: 29143201) J Health Soc Behav. 2010 Dec;51(4):408-23. (PMID: 21131618) J Inherit Metab Dis. 2020 Nov;43(6):1243-1253. (PMID: 32506446) Semin Perinatol. 2015 Apr;39(3):206-16. (PMID: 25891428) JIMD Rep. 2015;19:67-73. (PMID: 25681082) Genet Med. 2018 Aug;20(8):847-854. (PMID: 29120458) J Hum Genet. 2007;52(11):898-906. (PMID: 17805474) N Engl J Med. 2010 Apr 15;362(15):1396-406. (PMID: 20393176) Genet Med. 2009 Mar;11(3):210-9. (PMID: 19287243) Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. (PMID: 34822769) Science. 2002 Apr 12;296(5566):301-5. (PMID: 11951032) JIMD Rep. 2014;17:71-5. (PMID: 25213570) Mol Genet Metab Rep. 2016 Nov 18;9:98-105. (PMID: 27896132) Children (Basel). 2021 Nov 09;8(11):. (PMID: 34828739) Int J Neonatal Screen. 2020 Feb 14;6(1):11. (PMID: 33073009) JIMD Rep. 2012;6:117-25. (PMID: 23430949) J Genet Couns. 2016 Apr;25(2):373-84. (PMID: 26315880) Mol Genet Metab. 2014 Feb;111(2):92-100. (PMID: 24044919) Neurology. 2016 Mar 29;86(13):1260-1. (PMID: 26944269) Front Pediatr. 2022 Mar 28;10:814461. (PMID: 35419325) Mol Genet Metab Rep. 2015 Dec 1;5:76-79. (PMID: 26693141) Orphanet J Rare Dis. 2020 Feb 3;15(1):38. (PMID: 32014045) Int J Neonatal Screen. 2020 Jan 21;6(1):4. (PMID: 33073003) Mol Genet Metab. 2021 Sep-Oct;134(1-2):20-28. (PMID: 34602357) J Hum Genet. 2021 Nov;66(11):1089-1099. (PMID: 33972680) Mol Genet Metab. 2022 Mar;135(3):179-185. (PMID: 35123877) Eur J Hum Genet. 2021 Mar;29(3):434-446. (PMID: 33162552) Am J Med Genet A. 2007 Nov 1;143A(21):2493-501. (PMID: 17853454) Lancet Neurol. 2021 Dec;20(12):1027-1037. (PMID: 34800400) Am J Med Genet A. 2014 Jan;164A(1):54-61. (PMID: 24243590) Clin Chim Acta. 2014 Apr 20;431:80-6. (PMID: 24513544) Mol Genet Metab. 2011 Aug;103(4):362-6. (PMID: 21605996) Mol Ther Nucleic Acids. 2017 Jun 16;7:101-115. (PMID: 28624186) Orphanet J Rare Dis. 2021 Dec 18;16(1):516. (PMID: 34922579) Mol Genet Metab Rep. 2017 Jul 04;12:92-97. (PMID: 28721335) Neuromuscul Disord. 2014 Jul;24(7):648-50. (PMID: 24844452) J Inherit Metab Dis. 2016 Mar;39(2):261-71. (PMID: 26497565) Pediatrics. 2009 Dec;124(6):e1116-25. (PMID: 19948615) Eur J Hum Genet. 2008 Aug;16(8):875-9. (PMID: 18301443) Mol Genet Metab. 2012 Jul;106(3):281-6. (PMID: 22578805) Mol Genet Metab. 2017 Nov;122(3):99-107. (PMID: 28951071) Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. (PMID: 22252961) Hum Mutat. 2019 Nov;40(11):1954-1967. (PMID: 31254424) J Pediatr. 2018 Jul;198:308-312. (PMID: 29627187) Mol Genet Metab. 2012 Mar;105(3):428-32. (PMID: 22217428) Lancet. 2012 Jan 28;379(9813):335-41. (PMID: 22133539) Clin Chem. 2008 Oct;54(10):1624-9. (PMID: 18703766) Orphanet J Rare Dis. 2013 Nov 19;8:182. (PMID: 24245577) J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1343-1347. (PMID: 30433875) Pediatrics. 2017 Jul;140(Suppl 1):S4-S13. (PMID: 29162673) Clin Chem. 2017 Apr;63(4):842-851. (PMID: 28196920) Genet Mol Biol. 2018 Apr./Jun;41(2):414-416. (PMID: 29870571) Lab Invest. 2006 Dec;86(12):1208-20. (PMID: 17075580) J Hum Genet. 2019 Aug;64(8):741-755. (PMID: 31076647) Ann Transl Med. 2019 Jul;7(13):281. (PMID: 31392193) Int J Neonatal Screen. 2019 Jun 21;5(2):24. (PMID: 33072983) J Inherit Metab Dis. 2018 Nov;41(6):1189-1203. (PMID: 29594646) J Neurol. 2010 Jan;257(1):91-7. (PMID: 19649685) Neurobiol Dis. 2004 Jun;16(1):14-20. (PMID: 15207257) Int J Neonatal Screen. 2020 Nov 13;6(4):. (PMID: 33202836) J Genet Couns. 2021 Dec;30(6):1544-1558. (PMID: 33938615) |
فهرسة مساهمة: | Keywords: Acid α-glucosidase; CLIR, Collaborative Laboratory Integrated Reports; CRIM, cross-reactive immunological material; DBS, dried blood spot; DMF, digital microfluidics; ECG, electrocardiogram; EF, ejection fraction; EMG, electromyography; ERT, enzyme replacement therapy; Enzyme replacement therapy; GAA, acid α-glucosidase; GMFM-88, Gross Motor Function Measure; Glc4, glucose tetrasaccharide; IOPD, infantile-onset Pompe disease; ITI, immunotolerance induction; LOPD, late-onset Pompe disease; LVMI, left ventricular max index; MFM-20, motor function measurement; MRC, Medical Research Council Scale; MRI, magnetic resonance imaging; MS/MS, tandem mass spectrometry; NBS, newborn screening; Newborn screening; PBMC, peripheral blood mononuclear cells; PD, Pompe disease; PPV, positive predictive value; Pompe disease; RUSP, Recommended Uniform Screening Panel; Tandem mass-spectrometry; Urinary tetrasaccharide; VUS, variants of uncertain significance.; nv, normal values; rhGAA, recombinant human GAA |
تواريخ الأحداث: | Date Created: 20221031 Latest Revision: 20230328 |
رمز التحديث: | 20240628 |
مُعرف محوري في PubMed: | PMC9597184 |
DOI: | 10.1016/j.ymgmr.2022.100929 |
PMID: | 36310651 |
قاعدة البيانات: | MEDLINE |
تدمد: | 2214-4269 |
---|---|
DOI: | 10.1016/j.ymgmr.2022.100929 |