Modern Approaches to Therapy for Children With Mucopolysaccharidosis

Бучинская, Н. В.; Чикова, И. А.; Исупова, Е. А.; Калашникова, О. В.; Костик, М. М.; Часнык, В. Г.

doi:10.15690/vsp.v13i3.1026

Cited by 7 publications

(3 citation statements)

References 21 publications

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“…В 2019 г. в Российской Федерации было официально зарегистрировано 133 больных МПС II, из них 80% составляли дети [7]. В Северо-Западном федеральном округе МПС II является самой частой лизосомной болезнью накопления [8].…”

Section: вопросы современной педиатрииunclassified

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case

Кручина

Бручиков

Новик

2020

Vopr. sovr. pediatr.

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Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency. Patients with MPS II require life-long enzyme replacement therapy (ERT) to replace the deficiency of endogenous enzyme. There are two medications — idursulfase and idursulfase beta — that are licensed and recommended for these patients in Russian Federation. However, it is well known that ERT can cause hypersensitivity reactions development.Clinical Case Description. The ERT (idursulfase in the dose of 0.5 mg/kg once per week) onset in the male patient with severe MPS II was at the age of 2.5 years. Hypersensitivity reactions (urticaria, fever) were noted incidentally, thus, the premedication with antihistamines and antipyretics was performed. The ERT side effects has aggravated at the age of 8 years despite the glucocorticosteroids admission and infusion rate reduction up to 8–16 ml/h. That is why we have changed the medication on idursulfase beta with major clinical response: we have achieved control on both disease itself and hypersensitivity reactions.Conclusion. The availability of two ERT medications for patients with MPS II expands treatment opportunities. In case of any allergic reactions due to idursulfase, the change on idursulfase beta reduces the risk of any ERT complications with sufficient control of MPS II course.

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Section: вопросы современной педиатрииunclassified

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case

Кручина

Бручиков

Новик

2020

Vopr. sovr. pediatr.

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“…введение В последние годы интерес к изучению лизосомных болезней накопления, главным образом мукополисахаридозов (МПС), значительно повысился в связи с совершенствованием их диагностики, а также с появлением эффективных методов их лечения, таких как ферментозаместительная терапия (ФЗТ) и трансплантация гематопоэтических столовых клеток (ТГСК) [1]. Еще более существенные перспективы открываются перед учеными и клиницистами в свете разработки новых направлений лечения, которые в настоящее время реализуются в виде клинических исследований (шаперонотерапия, генная терапия) [2].…”

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Upper Limb Pathology in Children with Mucopolysaccharidoses

Kenis

Melchenko

Маркова

et al. 2021

Traumatology and Orthopedics of Russia

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Background. Despite the success in the treatment of children with mucopolysaccharidoses (MPS) as a result of the widespread of enzyme replacement therapy and hematopoietic stem cells transplantation, orthopedic manifestations continue to be a significant problem, while the pathology of the upper limbs in children with MPS is not sufficiently represented in the literature. The aim of this studywas to analyze orthopedic and neurological manifestations in the upper extremities of children with mucopolysaccharidosis based on a sequential case series. Materials and Methods. We carried out a comprehensive analysis of clinical and radiological involvement of the upper extremities in 49 patients with MPS. Results. The most common complaints reated to the upper extremities were difficulties in the daily activities (dressing, self-care, playing), impairment of the fine motor skills, and muscle weakness. The most frequent clinical manifestations related to the upper extremities were limited active shoulder abduction, impaired hand grip, flexion contractures of the elbow joint, ulnar deviation of the hand. All patients with MPS types I, II, and VI had limited active and passive extension and flexion of the metacarpophalangeal and interphalangeal joints. In patients with MPS IV, hypermobility of the hand joints prevailed. We noticed minimal presence of typical clinical manifestations related to compression of the median nerve secific for carpal tunnel syndrome. The majority of patients showed a decrease in tendon and periosteal reflexes. The most pronounced decrease in muscle strength was observed in to extensors (elbow, fingers) and shoulder abductors, which may contribute to the predominant formation of a flexion pattern of contractures. On radiographs of the hand, the “melting sugar” symptom and shortening of the metacarpal bones were observed in most patients. Conclusion.Clinical and radiological manifestations related to the upper extremities take place in all types of the mPS, and lead to functional disorders that complicate daily life and self-care. Upper limb pathology in children with MPS requires earlier detection and more active treatment after comprehensive risk assessment.

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“…В РФ -с 2009 года [1,8,9,10,11]. Поздняя диагностика и позднее начало лечения МПС VI типа ухудшают прогноз жизни больного [12].…”

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Maroteaux-Lamy syndrome–mucopolysaccharidosis type VI: a case report (errors and complications)

Mikhailova¹,

Kuleshov²,

Arzhakova³

et al. 2017

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Modern Approaches to Therapy for Children With Mucopolysaccharidosis

Cited by 7 publications

References 21 publications

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case

Upper Limb Pathology in Children with Mucopolysaccharidoses

Maroteaux-Lamy syndrome–mucopolysaccharidosis type VI: a case report (errors and complications)

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