Cardiac Involvement in the Mucopolysaccharide Disorders

Braunlin, Elizabeth

doi:10.1002/9781444398786.ch68

Cited by 3 publications

(4 citation statements)

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“…GAG deposition in severe MPS I may occur in the central nervous system leading to blindness, deafness, increased intracranial pressure, and mental retardation; in the joints and bones leading to short stature, dysostosis multiplex, and stiff and poorly mobile joints; and in the airways and soft tissues leading to sleep apnea and other respiratory difficulties. GAG deposition in the heart is associated with myocardial hypertrophy, narrowing of the coronary arteries, aortic root dilation, dilated cardiomyopathy, and thickened aortic and mitral valves resulting in stenosis and/or regurgitation (Braunlin 2012). The progressive nature of severe MPS I is well established (Neufeld and Muenzer 2001), and it is becoming evident that neither hematopoietic cell transplant (HCT) nor enzyme replacement therapy (ERT) can reverse some pathological processes such as dysostosis multiplex (Weisstein et al 2004;Sifuentes et al 2007), corneal clouding (Gillingsrud et al 1998), and cardiac valve abnormalities (Braunlin et al 2003(Braunlin et al , 2006 in older children.…”

Section: Introductionmentioning

confidence: 99%

Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

et al. 2012

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Serious cardiac valve disease and left ventricular hypertrophy occur in most untreated older children with severe mucopolysaccharidosis type I. Although it is assumed that early intervention prevents these processes, evaluation of cardiac findings in these infants has not yet been reported. In our study of 13 infants with severe untreated MPS I < 1 year of age, mitral and aortic valve thickening was nearly universally present and aortic root dilation was frequent. Despite this, we found a lower incidence of left ventricular hypertrophy and both a lower incidence and milder expression of mitral and aortic valve dysfunction than previously reported in older children. These findings suggest that earlier intervention, including neonatal screening, may be of benefit to children with severe MPS I.

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Section: Introductionmentioning

confidence: 99%

Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

et al. 2012

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“…Вашакмадзе 1,3 DOI: 10.15690/vsp.v17i1.1858 1 ОБОСНОВАНИЕ Мукополисахаридозы (МПС) -группа наследственных лизосомных болезней накопления, развивающихся вследствие функционального дефицита специфических ферментов -участников процесса катаболизма гликозаминогликанов (ГАГ). Последние являются компонентами экстраклеточного матрикса, присутствующего во всех тканях организма человека [1]. Частота встречаемости всех типов МПС варьирует в различных странах и регионах, составляя в среднем 1/25 000-52 000 новорожденных [1].…”

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“…Последние являются компонентами экстраклеточного матрикса, присутствующего во всех тканях организма человека [1]. Частота встречаемости всех типов МПС варьирует в различных странах и регионах, составляя в среднем 1/25 000-52 000 новорожденных [1]. Для тяжелых форм МПС I, II, VII типов и МПС III типа характерно первичное поражение центральной нервной систе-мы с регрессом когнитивных и двигательных функций, нарушениями поведения [2].…”

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“…Выраженность и скорость прогрессирования клинических проявлений МПС со стороны различных систем и органов варьирует в значительной степени, отражая характерный для лизосомных болезней накопления клинический континуум. Причинами смерти пациентов с МПС в основном являются дыхательная и/или сердечная недостаточность [1][2][3].…”

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Efficacy and Safety of Enzyme Replacement Therapy in Children With Mucopolysaccharidosis Type I, Ii, and Vi: A Single-Center Cohort Study

Osipova¹,

Kuzenkova²,

Намазова-Баранова³

et al. 2018

Vopr. sovr. pediatr.

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Background. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS). Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II, and VI. Methods. We analyzed the results of ERT with laronidase, idursulfase, and galsulfase in children with MPS type I, II, and VI admitted to the federal research center from January 2007 to November 2016. The response rate was assessed by the level of normalized urinary excretion of glycosaminoglycans (GAGs) (the ratio of GAGs concentration to urine creatinine) recalculated in percent (%) exceedance of the upper limit of normal for the corresponding age. Data on the administered therapy and its results, including adverse events, is extracted from the medical records of in-patients. Results. The results of treatment (intravenous infusions, intervals between administrations from 4 to 10 days) were studied in 33 children (5 of them were girls) with MPS type I (n = 4; laronidase at a dose of 0.58 mg/kg), II (n = 26; idursulfase at a dose of 0.5 mg/kg), and VI (n = 3; galsulfase at a dose of 1 mg/kg). A decrease in the normalized urinary excretion of GAGs from 376% (172; 791) to 54% (0; 146) exceedance of the upper limit of normal for the age (p < 0.001) was noted in the course of ERT lasting (median) 27 (14; 41) months. A decrease in the normalized GAGs excretion below the upper limit of normal for the age was established in 12/33 (36%) patients. ERT-associated adverse events were identified in 12 patients; one case required a twofold therapy interruption. The development of nephrotic syndrome in the course of ERT in patients with severe MPS II was first described. Conclusion. Long-term ERT in children with MPS type I, II, and VI is characterized by acceptable efficacy and safety.

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Adaptive skills in children with mucopolysaccharidoses

Osipova

Kuzenkova

Podkletnova

2023

Nevrol. ž. im. L.O. Badalâna

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Introduction. Mucopolysaccharidoses (MPS) are a group of rare lethal lysosomal storage disoders. The progress in pathogenetic and symptomatic treatment, achieved in the last two decades, has resulted in increased life expectancy of patients. Assessment of functional abilities of patients is necessary for optimization of medical, psychological, and pedagogical support. The aim of the study. To study the adaptive skills, measured with Vineland Adaptive Behavior Scales, and the impact of enzyme-replacement therapy on adaptive skills in MPS children. Materials and methods. A semi-structured interview for Vineland Adaptive Behavior Scales filling was carried out with one of the parents of 59 children with MPS. 41 patients had neuronopathic disease: 20 children received pathogenetic еnzyme replacement therapy (ERT), 21 patients didn’t receive ERT. 18 patients exhibited non-neuronopathic disease: 8 children received ERT, 10 — didn’t receive pathogenetic therapy. Dynamical changes in adaptive skills were investigated in 11 patients with neuronopathic MPS. Results. Low level of adaptive motor, communication, daily living and socialization skills and their dynamical regress, stagnation or deceleration are characteristic for children with neuronopathic MPS. More than 75% of non-neuronopathic MPS patients have moderately low and low levels of adaptive behavior composite. ERT hasn’t demonstrated significant impact on adaptive skills in MPS patients. Non-significant tendency toward better level of communication skills has been noticed in children, receiving pathogenetic therapy. Necessity of weekly infusion may have a negative influence on patients’ socialization. Conclusion. Elaboration of motor, pedagogical, and social rehabilitation programs is needed for correction of deficiency in adaptive skills and achieving adequate social adaptation in MPS children with preserved cognitive abilities.

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Cardiac Involvement in the Mucopolysaccharide Disorders

Cited by 3 publications

References 102 publications

Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

Efficacy and Safety of Enzyme Replacement Therapy in Children With Mucopolysaccharidosis Type I, Ii, and Vi: A Single-Center Cohort Study

Adaptive skills in children with mucopolysaccharidoses

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