Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.

Autor: Alsharhan H; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ahmed AA; Newborn Screening Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ali NM; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Alahmad A; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elshafie RM; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Alkanderi S; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elkazzaz UM; Newborn Screening Office, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait., Cyril PX; Newborn Screening Office, Adan Hospital, Ministry of Health, Hadiya 52700, Kuwait., Abdelrahman RM; Newborn Screening Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elmonairy AA; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ibrahim SM; Newborn Screening Office, Al-Sabah Maternity Hospital, Ministry of Health, Sulaibikhat 80901, Kuwait., Elfeky YME; Newborn Screening Office, Jahra Hospital, Ministry of Health, Jahra 00020, Kuwait., Sadik DI; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Al-Enezi SD; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Salloum AM; Biochemistry Laboratory, Al-Sabah Hospital, Ministry of Health, Shuwaikh 70051, Kuwait., Girish Y; Clinical Biochemistry Laboratory, Ibn Sina Hospital, Ministry of Health, Shuwaikh, P.O. Box 25427, Safat 13115, Kuwait., Al-Ali M; Next Generation Sequencing Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Ramadan DG; Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, Shuweikh 70051, Kuwait., Alsafi R; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya 52700, Kuwait., Al-Rushood M; Newborn Screening Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Bastaki L; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.
Jazyk: angličtina
Zdroj: International journal of neonatal screening [Int J Neonatal Screen] 2021 Aug 17; Vol. 7 (3). Date of Electronic Publication: 2021 Aug 17.
DOI: 10.3390/ijns7030056
Abstrakt: Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders. A retrospective study conducted between January 2015 and December 2020 revealed a total of 304,086 newborns have been screened in Kuwait. Six newborns were diagnosed with classic homocystinuria with an incidence of 1:50,000, which is not as high as in Qatar but higher than the global incidence. Molecular testing for five of them has revealed three previously reported pathogenic variants in the CBS gene, c.969G>A, p.(Trp323Ter); c.982G>A, p.(Asp328Asn); and the Qatari founder variant c.1006C>T, p.(Arg336Cys). This is the first study to review the screening of newborns in Kuwait for classic homocystinuria, starting with the detection of elevated blood methionine and providing a follow-up strategy for positive results, including plasma total homocysteine and amino acid analyses. Further, we have demonstrated an increase in the specificity of the current newborn screening test for classic homocystinuria by including the methionine to phenylalanine ratio along with the elevated methionine blood levels in first-tier testing. Here, we provide evidence that the newborn screening in Kuwait has led to the early detection of classic homocystinuria cases and enabled the affected individuals to lead active and productive lives.
Databáze: MEDLINE
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