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Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler
- Source :
- World journal of pediatrics : WJP. 5(4)
- Publication Year :
- 2008
-
Abstract
- Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT).We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT.Urinary glucosaminoglycan excretion decreased by 70% after one month of ERT. Liver volume decreased by 14% of baseline after 12 months of ERT. Pre-existing thoracolumbar kyphosis progressed to thoracolumbar dislocation with complete displacement of facets after 12 months of ERT. New development of mitral valve thickening was found by echocardiography and mild hearing loss progressed to severe sensorineural hearing loss after 13 months of ERT.ERT over a period of 14 months did not prevent progression of organ manifestations in our patient. Patients should be monitored every 6 months for cardiac, skeletal and audiological involvement on ERT.
- Subjects :
- Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pediatrics
medicine.medical_treatment
Hearing Loss, Sensorineural
Mucopolysaccharidosis I
Hematopoietic stem cell transplantation
Mucopolysaccharidosis type I
Iduronidase
Pediatric surgery
medicine
Humans
Enzyme Replacement Therapy
Glycosaminoglycans
Maternal and child health
business.industry
LARONIDASE
Hematopoietic Stem Cell Transplantation
nutritional and metabolic diseases
Enzyme replacement therapy
Surgery
surgical procedures, operative
Child, Preschool
Pediatrics, Perinatology and Child Health
Disease Progression
business
Subjects
Details
- ISSN :
- 17088569
- Volume :
- 5
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- World journal of pediatrics : WJP
- Accession number :
- edsair.doi.dedup.....3d22718ea640f04e191a2326f66dc311