TY - JOUR
T1 - Long-term outcomes of early enzyme replacement therapy for mucopolysaccharidosis IV
T2 - Clinical case studies of two siblings
AU - Barak, Sharon
AU - Anikster, Yair
AU - Sarouk, Ifat
AU - Stern, Eve
AU - Eisenstein, Etzyona
AU - Yissar, Tamar
AU - Sherr-Lurie, Nir
AU - Raas-Rothschild, Annick
AU - Guttman, Dafna
N1 - Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Case report
KW - Deficient N-acetylgalactosamine 6-sulfatase
KW - Enzyme replacement therapy
KW - Glycosaminoglycan
KW - Morquio syndrome
KW - Mucopolysaccharidosis
UR - http://www.scopus.com/inward/record.url?scp=85081242312&partnerID=8YFLogxK
U2 - 10.3390/diagnostics10020108
DO - 10.3390/diagnostics10020108
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AN - SCOPUS:85081242312
SN - 2075-4418
VL - 10
JO - Diagnostics
JF - Diagnostics
IS - 2
M1 - 108
ER -