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Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene
Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene
- Source :
- Clinica Chimica Acta. 423:66-68
- Publication Year :
- 2013
- Publisher :
- Elsevier BV, 2013.
-
Abstract
- Mucopolysaccharidosis II (Hunter syndrome), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Total by nearly 400 different mutations have been identified in IDS gene from patients with Hunter syndrome. Herein, we reported a patient who has a novel mutation in IDS gene with a severe clinical phenotype. Genetic analysis of the IDS gene revealed a novel 1-bp deletion in position c.1053T in exon 8 and resulting in a frameshift with a premature stop codon. Enzyme replacement therapy (ERT) using idursulfase (Elaprase®) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and decreased the level of urinary glycosaminoglycan. ERT was proved to be effective at least in part in even an adult patient with severe type of Hunter syndrome.
- Subjects :
- Adult
Male
medicine.medical_specialty
Idursulfase
Clinical Biochemistry
Hepatosplenomegaly
Iduronate Sulfatase
Biology
Biochemistry
Frameshift mutation
Exon
Japan
Internal medicine
medicine
Humans
Enzyme Replacement Therapy
Gene
Glycosaminoglycans
Mucopolysaccharidosis II
Biochemistry (medical)
Iduronate-2-sulfatase
Hunter syndrome
General Medicine
Enzyme replacement therapy
medicine.disease
Blood Cell Count
Treatment Outcome
Endocrinology
Liver
Immunology
medicine.symptom
Spleen
medicine.drug
Subjects
Details
- ISSN :
- 00098981
- Volume :
- 423
- Database :
- OpenAIRE
- Journal :
- Clinica Chimica Acta
- Accession number :
- edsair.doi.dedup.....0d394d7d758ab9f3a568c639e900d17f
- Full Text :
- https://doi.org/10.1016/j.cca.2013.04.022