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
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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