From hypertransaminasemia to mucopolysaccharidosis IIIA

Krawiec, Paulina; Pac-Kożuchowska, Elżbieta; Mełges, Beata; Mroczkowska-Juchkiewicz, Agnieszka; Pawłowska-Kamieniak, Agnieszka; Kominek, Katarzyna

doi:10.1186/s13052-014-0097-z

Cited by 10 publications

(11 citation statements)

References 8 publications

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“…Так, о повышении ферментов печени у пациентов с МПС сообщают лишь единичные публикации: на данные изменения указывали Г. Дворяковская и соавт., P. Krawiec и соавт. [27,28]. В то же время J. Wraith и соавт.…”

Section: нежелательные явленияunclassified

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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Section: нежелательные явленияunclassified

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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“…Соматические симптомы данного типа МПС выражены в меньшей, чем при других мукополисахаридозах, степени. Подобное диспропорциональное поражение центральной нервной системы является уникальным свойством синдрома Санфилиппо [1,30,31].…”

Section: клиническая картинаunclassified

“…Кроме того, описаны проявления неонатальной желтухи и нарушения вскармливания [5]. Однако все вышеприведенные данные требуют аккуратной интерпретации и дальнейшего изучения [31].…”

Section: особенности течения перинатального периодаunclassified

“…Несмотря на общепринятую точку зрения о незначительной выраженности соматических проявлений при синдроме Санфилиппо, в последнее время опубликовано большое число сообщений, свидетельствующих о частых и значительных экстраневральных симптомах при МПС IIIА [5,31,34].…”

Section: соматические проявленияunclassified

“…Рентгенологические изменения состоят в утолщении костей свода черепа, нарушении пневматизации параназальных синусов и ячеек сосцевидного отростка, овоидной деформации поясничных позвонков и редко встречающейся минимальной клювовидной их деформации, уменьшении высоты крыльев подвздошных костей, деформации вертлужных впадин, недоразвитии и признаках остеонекроза головок бедренных костей с возможным присоединением болевого синдрома. Признаки кифоза минимальны или отсутствуют [3,36,37], описано развитие сколиоза, поясничного гиперлордоза, вальгусной деформации коленных суставов, варусной деформации стоп [31,37]. В первые годы жизни возможно ускорение роста, однако после десятилетнего возраста отмечается его остановка [3].…”

Section: соматические проявленияunclassified

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Sanfilippo Syndrome

et al. 2015

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Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. The pathogenic basis of the disease consists of the storage of undegraded substrate in the central nervous system. Progressive cognitive decline resulting in dementia and behavioural abnormalities are the main clinical characteristics of Sanfilippo syndrome. Mucopolysaccharidosis type III may be misdiagnosed as other forms of developmental delay, attention deficit/hyperactivity disorder and autistic spectrum disorders because of lack of somatic symptoms, presence of mild and atypical forms of the disease. Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. Definitive diagnosis is made by enzyme assay on leucocytes and cultured fibroblasts. There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future.

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Movement Disorders and Liver Disease

Mulroy

Baschieri

Magrinelli

et al. 2021

Movement Disord Clin Pract

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The association of movement disorders with structural or functional hepatic disease occurs in three principal scenarios: (1) combined involvement of both organ systems from a single disease entity, (2) nervous system dysfunction resulting from exposure to toxic compounds in the setting of defective hepatic clearance, or (3) hepatic and/or neurological injury secondary to exposure to exogenous drugs or toxins. An important early step in the workup of any patient with combined movement disorders and liver disease is the exclusion of Wilson's disease. Diagnostic delay remains common for this treatable disorder, and this has major implications for patient outcomes. Thereafter, a structured approach integrating variables such as age of onset, tempo of progression, nature and severity of liver involvement, movement disorder phenomenology, exposure to drugs/toxins and laboratory/neuroimaging findings is key to ensuring timely diagnosis and disease-specific therapy. Herein, we provide an overview of disorders which may manifest with a combination of movement disorders and liver disease, structured under the three headings as detailed above. In each section, the most common disorders are discussed, along with important clinical pearls, suggested diagnostic workup, differential diagnoses and where appropriate, treatment considerations.The association of movement disorders (MD) with hepatic disease is a noteworthy one. In some instances, it is merely coincidental. In others, it may reflect:

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From hypertransaminasemia to mucopolysaccharidosis IIIA

Cited by 10 publications

References 8 publications

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

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

Sanfilippo Syndrome

Movement Disorders and Liver Disease

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