Growth charts for patients with Hunter syndrome
Autor: | Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Kenji E. Orii, Yasuyuki Suzuki, Miho Maeda, Pravin Patel, Tadao Orii |
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Jazyk: | angličtina |
Rok vydání: | 2014 |
Předmět: |
Longitudinal study
medicine.medical_specialty Mucopolysaccharidosis II Birth weight HS heparan sulfate I2S iduronate 2-sulfatase Disease GAG glycosaminoglycan Lysosomal storage disorders Mucopolysaccaridosis type II 03 medical and health sciences 0302 clinical medicine Endocrinology MPS II mucopolysaccharidosis II Internal medicine Genetics medicine Growth charts Molecular Biology lcsh:QH301-705.5 LSD Lysosomal storage disorder 0303 health sciences lcsh:R5-920 business.industry SRT substrate reduction therapy 030305 genetics & heredity Final height nutritional and metabolic diseases Hunter syndrome medicine.disease ECM extracellular matrix ERT enzyme replacement therapy Natural history lcsh:Biology (General) DS dermatan sulfate business Birth length Height velocity lcsh:Medicine (General) HSCT hematopoietic stem cell therapy 030217 neurology & neurosurgery Research Paper |
Zdroj: | Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014) Molecular Genetics and Metabolism Reports |
ISSN: | 2214-4269 |
Popis: | Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans. However, there has been no systemic report on the growth of patients with MPS II. The purpose of this study is to describe the growth patterns of patients with MPS II and to compare with the patterns of age-matched controls. Data (height, weight, age, etc.) was collected in a longitudinal study of Japanese male patients with MPS II (n = 111). The mean birth length was 50.31 ± 1.42 cm, while the mean birth weight was 3.35 ± 0.39 kg. The mean final height and weight at 18 years and older were 125.63 ± 9.09 cm and 37.18 ± 8.72 kg; corresponding to a difference of − 46.40 cm and − 25.89 kg lower, when compared with healthy Japanese male controls. The mean birth BMI was 10.84 ± 3.29 kg/m2, while the mean BMI at 18 years was 29.41 ± 6.15 kg/m2. The growth pattern in patients with MPS II was characterized by overgrowth for the first several years, although growth velocity fell below that of the normal healthy controls after one year of age. No statistical difference in height was observed between patients with the attenuated and severe phenotypes in each age class. In conclusion, this report describes the natural history of growth in patients with MPS II, which can help in monitoring the progression of the disease as well as assessing therapeutic efficacy. Highlights • Growth charts of patients with MPS II were established. • Overgrowth was observed in infantile period. • Short stature was marked with age. • No clear difference in growth was observed by phenotype. • The reader will understand natural history of growth in patients with MPS II. |
Databáze: | OpenAIRE |
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