Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan

被引：1

作者：

Lin, Hsiang-Yu ^{[1
,2
,3
,4
,5
,6
]}

Lee, Chung-Lin ^{[1
,2
,3
,4
,5
]}

Chang, Ya-Hui ^{[1
,3
]}

Tu, Yuan-Rong ^{[2
]}

Lo, Yun-Ting ^{[3
]}

Wu, Jun-Yi ^{[3
]}

Niu, Dau-Ming ^{[7
]}

Liu, Mei-Ying ^{[8
]}

Liu, Hsin-Yun ^{[8
]}

Chen, Hsiao-Jan ^{[8
]}

Kao, Shu-Min ^{[8
]}

Wang, Li-Yun ^{[9
]}

Ho, Huey-Jane ^{[9
]}

Chuang, Chih-Kuang ^{[2
,10
]}

Lin, Shuan-Pei ^{[1
,2
,3
,4
,11
]}

机构：

[1] MacKay Mem Hosp, Dept Pediat, 92 Sec 2,Chung Shan North Rd, Taipei 10449, Taiwan

[2] MacKay Mem Hosp, Dept Med Res, 92 Chung Shan N Rd,Sec 2, Taipei 10449, Taiwan

[3] MacKay Mem Hosp, Rare Dis Ctr, Taipei, Taiwan

[4] MacKay Med Coll, Dept Med, New Taipei City, Taiwan

[5] MacKay Jr Coll Med Nursing & Management, Taipei, Taiwan

[6] China Med Univ, China Med Univ Hosp, Dept Med Res, Taichung, Taiwan

[7] Taipei Vet Gen Hosp, Dept Pediat, Taipei, Taiwan

[8] Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei, Taiwan

[9] Taipei Inst Pathol, Neonatal Screening Ctr, Taipei, Taiwan

[10] Fu Jen Catholic Univ, Coll Med, Taipei, Taiwan

[11] Natl Taipei Univ Nursing & Hlth Sci, Dept Infant & Child Care, Taipei, Taiwan

来源：

GENETICS IN MEDICINE | 2024年 / 26卷 / 12期

关键词：

Enzyme replacement therapy; Genotype-phenotype correlation; Glycosaminoglycans; Mucopolysaccharidosis IVA; (MPS IVA); Newborn screening program; STEM-CELL TRANSPLANTATION; ELOSULFASE ALPHA; MORQUIO;

D O I：

10.1016/j.gim.2024.101286

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase. Methods: From September 2019 to October 2023, a total of 264,843 Taiwanese newborns underwent screening for MPS IVA using dried blood spots and tandem mass spectrometry. Results: Among the 95 referred infants, 9 (9%) were confirmed to have MPS IVA (group 1), 18 (19%) were highly suspected to have MPS IVA (group 2), 61 (64%) were identified as heterozygotes of MPS IVA (group 3), and 7 (7%) were determined not to have MPS IVA (group 4). A total of 34 different GALNS (HGNC:4122) gene variants were identified through our MPS IVA newborn screening program. The most prevalent variant was c.857C>T p.(Thr286Met), found in 33 cases (29%), followed by c.953T>G p.(Met318Arg) in 22 cases (19%). Intravenous enzyme replacement therapy was initiated in 5 patients at ages ranging from 0.3 to 1.7 years. The estimated incidence of MPS IVA in this screening program was 3.4 per 100,000 live births. Conclusion: Because of the progressive nature of MPS IVA, an early diagnosis facilitated by newborn screening and prompt initiation of enzyme replacement therapy before irreversible organ damage occurs may result in improved clinical outcomes.

引用

页数：20

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[41] High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis [J].

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Pollard, Laura ;

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Burton, Barbara ;

Orsini, Joseph ;

Henderson, Matthew ;

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Gelb, Michael H. .

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[42] Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series [J].

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van Hasselt, Peter M. ;

Torkar, Ana Drole ;

Doric, Maja ;

Koren, Alenka ;

Avcin, Simona ;

Battelino, Tadej ;

Groselj, Urh .

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[43] Therapeutic drug monitoring: a way to improve long-term immunological balance? [J].

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[44] Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation [J].

Diaz Jacques, Carlos Eduardo ;

Donida, Bruna ;

Mescka, Caroline P. ;

Rodrigues, Daiane G. B. ;

Marchetti, Desiree P. ;

Bitencourt, Fernanda H. ;

Burin, Maira G. ;

de Souza, Carolina F. M. ;

Giugliani, Roberto ;

Vargas, Carmen Regla .

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[45] Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders [J].

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Cimbalo, Chiara ;

Castaldo, Raimondo J. ;

D'Antonio, Marcella ;

Scorza, Manuela ;

Salvadori, Laura ;

Sepe, Angela ;

Raia, Valeria ;

Tosco, Antonella .

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[46] Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme [J].

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Chu, Yen-Ling ;

Chen, Li-Zhen ;

Huang, Ling-Yi ;

Yang, Tsui-Feng ;

Ho, Hui-Chen ;

Kao, Shu-Min ;

Niu, Dau-Ming .

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[47] Guidelines for screening and management of late and long-term consequences of myeloma and its treatment [J].

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Greenfield, Diana M. ;

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Bowcock, Stella ;

Fisher, Abigail ;

Low, Eric ;

Morris, Monica ;

Yong, Kwee ;

Pratt, Guy .

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[48] Efficacy of Enzyme Replacement Therapy on the range of motion of the upper and lower extremities in 16 Polish patients with mucopolysaccharidosis type II: A long-term follow-up study [J].

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ACTA BIOCHIMICA POLONICA, 2022, 69 (01) :251-255

[49] Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease [J].

Ayto, R. M. ;

Hughes, D. A. ;

Jeevaratnam, P. ;

Rolles, K. ;

Burroughs, A. K. ;

Mistry, P. K. ;

Mehta, A. B. ;

Pastores, G. M. .

AMERICAN JOURNAL OF TRANSPLANTATION, 2010, 10 (08) :1934-1939

[50] Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings [J].

Franco, J. F. ;

Soares, D. C. ;

Torres, L. C. ;

Leal, G. N. ;

Cunha, M. T. ;

Honjo, R. S. ;

Bertola, D. R. ;

Kim, C. A. .

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