Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)

Gardner, Clarissa; Robinson, Nicola; Meadows, Tim; Wynn, Robert F.; Will, Andrew; Mercer, Jean; Church, Heather J.; Tylee, Karen; Wraith, J. Edmond; Clayton, Peter E.

doi:10.1007/s10545-010-9262-8

Cited by 25 publications

(20 citation statements)

References 28 publications

(31 reference statements)

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“…A combination of early bone maturation, growth failure, bone growth plate disorganization, joint contractures, and endocrine abnormalities has been proposed for short stature of patients with various MPS disorders (Polgreen et al 2008;Decker et al 2010;White 2011). Growth hormone (GH)/insulin-like growth factor (IGF-1) deficiency or resistance has been reported in some patients with MPS IH (Hurler syndrome), MPS II, and MPS IIIA and in a rare case of MPS VI (Buyukgebiz et al 1995;Polgreen et al 2008;Gardner et al 2011). However, others have not observed GH/IGF-1, thyroid hormone, or pituitary-hypothalamic insufficiency (in spite of a report of empty pituitary sella) as cause(s) of growth retardation in MPS VI (Von Muhlendahl and Bradac 1975;Borges et al 2003;Decker et al 2010).…”

Section: Discussionmentioning

confidence: 99%

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

et al. 2014

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Background: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.Objective: The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease.Methods: We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme ® , BioMarin Pharmaceutical Inc.), treatment naïve patients (n ¼ 269) who participated in various MPS VI studies, including galsulfase clinical trials and their extension programs, the MPS VI clinical surveillance program (CSP), and the MPS VI survey and resurvey studies, to construct growth charts for the MPS VI population. There were 229 patients included in this study, of which data from 207 patients 25 years of age with 513 height measurements were used for constructing reference growth curves.Results: Height for age growth curves for the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles were constructed for patients with rapidly and slowly progressing disease defined by the pre-enzyme replacement therapy (ERT) uGAG levels of > or 200 mg/mg creatinine. The mean (SD) pre-ERT uGAG levels were 481.0 (218.6) and 97.8 (56.3) mg/mg creatinine for the patients 25 years of age with rapidly (n ¼ 131) and slowly (n ¼ 76) progressing MPS VI disease, respectively. The median growth curves for patients with and >200 mg/mg creatinine were above and below the median (50th percentile) growth curve for the entire MPS VI population.Conclusion: MPS VI growth charts have been developed to assist in the clinical management of MPS VI patients.

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Section: Discussionmentioning

confidence: 99%

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

et al. 2014

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“…Knowledge about the natural history and growth pattern of MPS is important when assessing the therapeutic efficacy. Previous studies have described the growth pattern in MPS patients, however, these reports only focused on a specific type of MPS without comparing the results with other types of MPS in a single population [5,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22]. The purpose of this study was to compare growth patterns among Taiwanese patients with different types of MPS.…”

Section: Introductionmentioning

confidence: 99%

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

et al. 2019

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Background: Children with mucopolysaccharidosis (MPS) generally appear unaffected at birth but may develop multiple clinical manifestations including profound growth impairment as they grow older. Each type of MPS has a variable age at onset and variable rate of progression, however, information regarding growth in Asian children is limited. Methods: This retrospective analysis included 129 Taiwanese patients with MPS (age range, 0.7 to 19.5 years, median age, 7.9 years) from eight medical centers in Taiwan from January 1996 through December 2018. Results: The mean z scores for the first recorded values of height, weight, and body mass index in the patients’ medical records were −4.25, −1.04, and 0.41 for MPS I (n = 9), −2.31, 0.19, and 0.84 for MPS II (n = 49), −0.42, 0.08, and −0.12 for MPS III (n = 27), −6.02, −2.04, and 0.12 for MPS IVA (n = 30), and −4.46, −1.52, and 0.19 for MPS VI (n = 14), respectively. MPS IVA had the lowest mean z scores for both height and weight among all types of MPS, followed by MPS VI, MPS I, MPS II, and MPS III, which showed the mildest growth retardation. Both z scores for height and weight were negatively correlated with increasing age for all types of MPS (p < 0.01). Of 32 patients younger than 5 years of age, 16 (50%), and 23 (72%) had positive z scores of height and weight, respectively. A substantial number of younger patients with MPS I, II, III, and IVA had a positive height z score. The median age at diagnosis was 3.9 years (n = 115). Conclusions: The patients with MPS IVA had the most significant growth retardation among all types of MPS, followed by MPS VI, MPS I, MPS II, and MPS III. The height and weight of the MPS patients younger than 2–5 years of age were higher than those of healthy individuals, however, their growth significantly decelerated in subsequent years. Understanding the growth curve and potential involved in each type of MPS may allow for early diagnosis and timely management of the disease, which may improve the quality of life.

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“…HCT leads to an increase in IDUA enzyme activity and concomitant reductions in substrate levels as well as stabilization of neurodegeneration567. HCT does not arrest the progression of joint and bone disease891011, nor does it reverse the characteristic changes in the heart valves1213. These observations suggest that GAG accumulation is not the sole mediator of disease-related complications in MPS-IH14.…”

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confidence: 99%

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

Raymond

Pasquali

Polgreen

et al. 2016

Sci Rep

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Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the first decade due to cardio-pulmonary complications. New data suggest that inflammation may play a role in MPS pathophysiology. To date there is almost no information on the pathophysiologic changes within the cerebral spinal fluid (CSF) of these patients. We evaluated the CSF of 25 consecutive patients with MPS-IH. While CSF glucose and total protein were within the normal range, we found a significantly mean elevated CSF opening pressure at 24 cm H2O (range 14–37 cm H2O). We observed a 3-fold elevation in CSF heparan sulfate and a 3–8 fold increase in MPS-IH specific non-reducing ends, I0S0 and I0S6. Cytokine analyses in CSF of children with MPS-IH showed significantly elevated inflammatory markers including: MCP-1 SDF-1a, IL-Ra, MIP-1b, IL-8, and VEGF in comparison to unaffected children. This is the largest report of CSF characteristics in children with MPS-IH. Identification of key biomarkers may provide further insight into the inflammatory-mediated mechanisms related to MPS diseases and perhaps lead to improved targeted therapies.

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Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)

Abstract: Growth is impaired, primarily related to skeletal dysplasia, but also associated with GH resistance. Pubertal development may be compromised and abnormalities of glucose metabolism are common. We recommend a structured endocrine surveillance programme for these patients.

Cited by 25 publications

References 28 publications

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

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