Mucopolysaccharidosis type II
the importance of early diagnosis and therapeutic possibilities
DOI:
https://doi.org/10.47456/rbps.v26i1.51122Keywords:
Mucopolysaccharidosis II, Rare Diseases, Metabolism Inborn Errors, Glycosaminoglycans (GAGs)Abstract
Introduction: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is defined as an enzyme deficiency of genetic origin, whose inheritance is recessive and X-linked. In this syndrome, there is a mutation in the gene responsible for encoding the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Therefore, GAGs accumulate in various organs and tissues, leading to their dysfunction. Case report: This study consists of a case report of this rare syndrome, in which the patient presents suggestive physical characteristics from birth and a family history of a sibling with the same disease, allowing early diagnosis. On physical examination, the patient presents phenotypic manifestations of the disease, such as low nasal bridge and hirsutism. Laboratory tests confirmed the increase in urinary glycosaminoglycans, and the genetic study confirmed an alteration in the IDS gene. With early diagnosis, the patient began intrathecal gene therapy at a specialized center in the South of the country and, despite the limitations of the disease, has shown favorable progress. He is being monitored by a physiotherapist, speech therapist, occupational therapist, pediatrician and geneticist. Conclusion: MPS II is a rare disease, whose most commonly used treatment in Brazil currently involves the management of signs and symptoms. However, advances in hematopoietic stem cell transplantation and enzyme and gene replacement therapies have provided longer survival and quality of life for patients. Healthcare professionals in various specialties should be alerted to ensure early diagnosis and intervention, modifying the natural history of these patients.
Downloads
References
Ministério da Saúde (Brasil). Portaria Conjunta nº. 16, de 24 de maio de 2018. Aprova o Protocolo Clínico e Diretrizes Terapêuticas da Mucopolissacaridose do tipo II. Diário Ocial da União 25 maio 2014; Seção 1
Suarez-Guerrero JL, Gómez Higuera PJI, Arias Fló-rez JS, Contreras- García GA. Mucopolisacaridosis: características clínicas, diagnóstico y de manejo. Revista chilena de pediatría. 2016; 87:295-304
Gaffke L, Pierzynowska K, Podlacha M, Brokowska J, Wegrzyn G. Changes in cellular processes oc-curring in mucopolysaccharidoses as underesti-mated pathomechanisms of these diseases. Cell Biol Int. 2021;45(3):498-506
Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, et al. Mucopolysaccharido-sis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167(3):267-77.
Giugliani R. Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genet Mol Biol. 2012 Dec. 35 (4 (suppl)):924-31
D’Avanzo F, Rigon L, Zanetti A, Tomanin R. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment. Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258. PMID: 32070051; PMCID: PMC7072947.
Mao SJ, Chen QQ, Dai YL, Dong GP, Zou CC. The diagnosis and management of mucopolysaccharidosis type II. Ital J Pediatr. 2024 Oct 8;50(1):207. doi: 10.1186/s13052-024-01769-9. PMID: 39380047; PMCID: PMC11463001.
Mohamed S, He QQ, Singh AA, Ferro V. Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment. Adv Carbohydr Chem Biochem. 2020;77:71-117. doi: 10.1016/bs.accb.2019.09.001. Epub 2019
Oct 26. PMID: 33004112.
Zapolnik P, Pyrkosz A. Gene Therapy for Mucopolysaccharidosis Type II- A Review of the Current Possibilities. Int J Mol Sci. 2021 May 23;22(11):5490. doi: 10.3390/ijms22115490. PMID: 34070997; PMCID: PMC8197095.
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Brazilian Journal of Health Research
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
The Revista Brasileira de Pesquisa em Saúde (RBPS) adopts the CC BY 4.0 license, which means that authors retain the copyright of the works they submit to the journal. Authors are responsible for declaring that their contribution is an original manuscript, that it has not been previously published, and that it is not under simultaneous review by another scientific journal. Upon submitting the manuscript, authors grant RBPS the exclusive right of first publication, subject to peer review.
Authors are permitted to enter into additional contracts for the non-exclusive distribution of the version published by RBPS (for example, in institutional repositories or as a book chapter), provided that due acknowledgment of authorship and of initial publication by RBPS is given. Authors are also encouraged to make their work available online (for example, in institutional repositories or on their personal pages) after its initial publication in the journal, with due acknowledgment of authorship and of the original publication by RBPS.
Accordingly, under the CC BY 4.0 license, readers have the right to:
- Share — copy and redistribute the material in any medium or format for any purpose, even commercially;
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
The licensor cannot revoke these freedoms as long as you follow the license terms. Under the following terms:
- Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
