Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.

Autor: van den Broek BTA; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: b.t.a.vandenbroek-2@umcutrecht.nl., van Egmond-Ebbeling MB; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: M.B.vanEgmond-Ebbeling@umcutrecht.nl., Achterberg JA; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Boelens JJ; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Pediatric Blood and Marrow Transplantation Program, Memorial Sloan Kettering Cancer Center, New York, New York., Vlessert IC; Section of Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Prinsen HCMT; Section of Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Doorn J; Section of Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Hasselt PM; Sylvia Toth Center for Multidisciplinary Follow-Up after Hematopoietic Cell Transplantation, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. Electronic address: P.vanHasselt@umcutrecht.nl.
Jazyk: angličtina
Zdroj: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation [Biol Blood Marrow Transplant] 2020 May; Vol. 26 (5), pp. 928-935. Date of Electronic Publication: 2019 Nov 29.
DOI: 10.1016/j.bbmt.2019.11.025
Abstrakt: Corneal clouding, causing visual impairment, is seen in nearly all patients with mucopolysaccharidosis type 1 (MPS-1). Hematopoietic cell transplantation (HCT) is able to stabilize disease in many organs. Residual disease in several tissues is being increasingly recognized, however. Data on the effect of HCT on ocular disease in patients with MPS-1 are contradictory. With this study, we aim to clarify the long-term effects of HCT on ocular disease in these patients. Best corrected visual acuity (BCVA), refraction, intraocular pressure (IOP), and slit-lamp biomicroscopic and fundoscopic examinations, including corneal clouding, were collected prospectively from 24 patients with MPS-1 who underwent HCT successfully between 2003 and 2018 (92% with >95% chimerism and normal enzyme activity after HCT). The course of corneal clouding and BCVA after HCT were analyzed using a linear mixed model. Other parameters studied were clinical phenotype, age at time of transplantation, and hematologic enzyme activity after transplantation. Outcomes of additional ophthalmologic tests were described. In addition, IDUA and α-galactosidase A (AGAL) enzyme activity and glycosaminoglycan (GAG) concentration in tear fluid were determined. Corneal clouding stabilized in the first years after HCT but increased rapidly beyond 3 years (P < .0001). BCVA and IOP also worsened over time (P = .01 and P < .0001, respectively). IDUA activity in tear fluid remained very low (P < .0001). After initial stabilization in the cornea, ongoing ocular disease and low IDUA activity in tear fluid is seen in patients with MPS-1 despite treatment with HCT, unveiling a weak spot of current standard therapy. New therapies that overcome these shortcomings are needed to improve the late outcomes of patients.
(Copyright © 2019 American Society for Transplantation and Cellular Therapy. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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