Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings.
Morquio syndrome
case report
deficient N-acetylgalactosamine 6-sulfatase
enzyme replacement therapy
glycosaminoglycan
mucopolysaccharidosis
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
17 Feb 2020
17 Feb 2020
Historique:
received:
20
11
2019
revised:
04
02
2020
accepted:
05
02
2020
entrez:
22
2
2020
pubmed:
23
2
2020
medline:
23
2
2020
Statut:
epublish
Résumé
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of elosulfase alfa for 4.5 years. One sibling (patient 1, P1; male) started therapy at 54 months of age, and the other sibling (patient 2, P2; female) started at 11 months of age. ERT was well-tolerated. In comparison to P1, P2's growth curves deviated less from the norm. The orthopedic deformities of P1 were more severe than those of P2 and required several surgical corrections. P1's sleep test at 48 months revealed obstructive sleep apnea, while by the age of 102 months, parameters were normal. P2 never had sleep apnea. Only P1 demonstrated ear, nose, and throat clinical illnesses. In comparison to P1, P2's physical function was better maintained. In conclusion, ERT was safe in both patients during a 4.5-year follow-up. Although the typical characteristics of this disease were similar in both patients, P1 had a complex clinical course in comparison to P2, which influenced function and quality of life. Therefore, in order to make the most of ERT, it may be more beneficial when initiated at a relatively young age.
Identifiants
pubmed: 32079294
pii: diagnostics10020108
doi: 10.3390/diagnostics10020108
pmc: PMC7168314
pii:
doi:
Types de publication
Case Reports
Langues
eng
Commentaires et corrections
Type : ErratumIn
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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