The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Parini, Rossella; Jones, Simon A.; Harmatz, Paul; Giugliani, Roberto; Mendelsohn, Nancy J.

doi:10.1016/j.ymgme.2016.01.009

Cited by 37 publications

(43 citation statements)

References 47 publications

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“…Previous studies have reported that children with MPS II tend to be taller and heavier than unaffected individuals for the first 3-5 years of age, and then their growth slows in subsequent years, reaching lower values in comparison with reference charts. No statistical differences in height and weight have been reported between patients with the attenuated and severe forms at any age [5,[10][11][12]. Our results are in agreement with these findings ( Table 2, Figures 3B and 4).…”

Section: Mps IIsupporting

confidence: 92%

“…Consistently, the mean birth weight was 3429 g for 34 male patients with MPS II in our cohort. Parini et al [12] reported a median age at the diagnosis of MPS II of 3.0 years (n = 316) for those with the severe form, and 3.8 years for those with the attenuated form (n = 320). Similarly, in our study, the median age at the diagnosis of MPS II was 3.0 years for the severe form (n = 25), and 4.2 years for the mild/intermediate form (n = 22).…”

Section: Mps IImentioning

confidence: 99%

“…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%

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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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Section: Mps IIsupporting

confidence: 92%

Section: Mps IImentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

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“…All types of MPSs experience abnormal growth with increased length at birth and decline of growth velocity beginning from 1 to 5-6 years of age [99,101,165,[169][170][171][172][173]. A complete or partial lack of pubertal growth spurt is also common in all MPS types [99,101,106,169,171,174]. In the first years of life, short height is more pronounced in MPS IVA, MPS I and MPS VI, but the final height is always shorter than healthy individuals in all MPSs, even in MPS III, the least affected type for growth [171].…”

Section: Bones and Growthmentioning

confidence: 99%

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Parini

Deodato

2020

IJMS

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The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approval studies. Post-marketing data are sometimes conflicting or controversial, possibly depending on disease severity, differently involved organs, age at starting treatment, and development of anti-drug antibodies (ADAs). There is general agreement that ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, while heart and joints outcomes are variable in different studies. Effectiveness on cardiac valves, trachea and bronchi, hearing and eyes is definitely poor, probably due to limited penetration in the specific tissues. ERT does not cross the blood–brain barrier, with the consequence that the central nervous system is not cured by intravenously injected ERT. All patients develop ADAs but their role in ERT tolerance and effectiveness has not been well defined yet. Lack of reliable biomarkers contributes to the uncertainties about effectiveness. The data obtained from affected siblings strongly indicates the need of neonatal screening for treatable MPSs. Currently, other treatments are under evaluation and will surely help improve the prognosis of MPS patients.

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“…Growth failure is a ubiquitous feature of Hunter syndrome with impaired growth beginning at 4–6 years. By 12 years, virtually all patients fall below the 3rd height percentile [3, 12] and fail to demonstrate a pubertal growth spurt [15]. With institution of enzyme therapy a benefit in height scores has been observed [16].…”

Section: Discussionmentioning

confidence: 99%

Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

Nour

Luca

Stephure

et al. 2016

Case Reports in Pediatrics

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Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases.

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The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Cited by 37 publications

References 47 publications

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

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

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

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