Laboratory studies and Pompe disease: from suspicion to therapy monitoring

Savostyanov, Kirill; Никитин, С. С.; Karpacheva, K. E.

doi:10.17650/2222-8721-2016-6-1-54-62

Cited by 3 publications

(1 citation statement)

References 31 publications

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“…Женщины до появления или при минимальных признаках БП имели по 1-2 беременности с самостоятельным родоразрешением. При настороженности относительно БППН благополучный анамнез до манифестации признаков БППН и нетипичные проявления расширяют спектр пациентов, которым показаны скрининг активности α-ГЛ в сухом пятне крови [58][59][60][61][62] и, при снижении активности ГЛ, проведение молекулярно-генетического исследования для подтверждении гликогеноза II типа с поздним началом.…”

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Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Никитин¹

2020

Neuromuscular Diseases

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Pompe disease is classified in two main forms: the infantile onset Pompe disease, manifested before the age of 12 months and late onset Pompe disease with a debut at any age after 1 year of life. The late onset Pompe disease is characterized by hyper creatine kinase level, limb-girdle and axial muscle weakness, usually complicated by respiratory muscles degeneration. Diagnostic delay is still common in most countries, and physician should be wary to of delaying the correct diagnosis. Difficulties in diagnosing late onset Pompe disease are associated with broad and continuous clinical spectrum of nonspecific signs and symptoms often not distinguishable from those in other neuromuscular disorders. The main muscular manifestations and clinical tests of late onset Pompe disease are considered, and extra-muscular changes are discussed that allow one to suspect type II glycogenosis.

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Section: лекции и обзорыunclassified

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Никитин¹

2020

Neuromuscular Diseases

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CRIM-negative infantile Pompe disease, long-term observation of the effect of enzyme replacement therapy: a clinical case

Sabirova,

Sadykova,

Kucheryavaya

et al. 2024

Kuban. nauсh. med. vestnik

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Background. Infantile-onset form of Pompe disease (IOPD) comprises a progressive and fatal disease in the absence of pathogenetic treatment. Enzyme replacement therapy using biologically active recombinant human alglucosidase alfa is considered as a treatment option to increase the life expectancy of patients with early diagnosis and timely initiation of therapy.Case description. A child aged 5 months was delivered to the Cardiology Department of Children’s Republican Clinical Hospital (Tatarstan, Russia) for examination and clarification of the diagnosis. The patient’s parents complained of his shortness of breath, unproductive cough, cyanosis of the nasolabial triangle when restless, weakness, lethargy during breastfeeding session, as well as decreased appetite up to refusal to eat, constantly enlarged tongue. The examination revealed macroglossia and hypersalivation, pseudohypertrophy of calf muscles, dyspnea involving the accessory muscles, hepatomegaly, diffuse muscular hypotonia. Laboratory tests revealed an increase in alanine aminotransferase level greater than four times the normal values, aspartate aminotransferase level — more than nine times, a significant rise of creatine phosphokinase and lactate dehydrogenase, as well as natriuretic peptide. Echocardiography revealed significant myocardial hypertrophy of both the left and right ventricles. Complaints, medical history, clinical examination, and all of the above changes in laboratory and instrumental examinations suggested a group of hereditary metabolic diseases (Pompe disease), confirmed by a pronounced decrease in the activity of the alpha-glucosidase enzyme to 0.12 μmol/l/h in dry blood spots with subsequent molecular genetic study and detection of compound-heterozygous mutations in the GAA gene. It was decided to initiate specific enzyme replacement therapy by intravenous administration of a recombinant form of human acidic alpha-glucosidase (alglucosidase alfa) at a dose of 20 mg/kg/injection in a frequency of once every 2 weeks. In addition, CRIM (cross-reactive immunological material)-negative status determined immune tolerance therapy, including the most studied combination of three drugs: rituximab, methotrexate, and intravenous immunoglobulin, as a response to enzyme replacement therapy. Long-term observation of the effect of enzyme replacement therapy brought positive results in the form of new motor skills, decreased content of intracellular enzymes and natriuretic peptide, reduction of myocardial hypertrophy of the left and right ventricles. In the future, the child needs lifelong treatment.Conclusion. Awareness of physicians about Pompe disease will prevent the growth in diagnostic errors and neglected cases. In case of early confirmation, the effectiveness of currently available ERT increases: the possibility to stop the disease progression, to reverse its individual clinical manifestations, and to improve the patient’s quality of life.

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Selective screening and molecular characteristics of Russian patients with Pompe disease

Savostyanov

Pushkov

Басаргина

et al. 2021

Nevrol. ž. im. L.O. Badalâna

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Introduction. Pompe disease (PD) or type II glycogenosis is a rare multisystem hereditary accumulation disease caused by a deficiency of the enzyme acid maltase (acid alpha-1,4-glucosidase), which leads to reduced activity to the accumulation of glycogen in various organs and tissues of the body. The aim of the study is to develop a high-performance method of early biochemical diagnosis of PD and optimization of its molecular genetic diagnosis. Materials and methods. The characteristics of the relative frequencies and spectrum of the detected mutations were studied using a sample of 7670 patients with suspected Pompe disease admitted to the National Medical Research Center of Children’s Health of the Ministry of Health of Russia as part of the selective screening, as well as eight patients with PD, whose laboratory diagnosis was made outside the framework of this selective screening. Results. As a result of selective screening of PD in Russian patients from high-risk groups, the detectability was 0.47%. PD’s clinical and age characteristics in both children and adults are described. The relative frequencies are calculated, and the spectrum of 47 pathogenic variants of the GAA gene responsible for the occurrence and development of Pompe disease in 44 patients is characterized. Seventeen new mutations of the GAA gene, unknown previously, have been identified and described, adding 2.7% to the HGMD database. Conclusion. Optimization of the algorithm of molecular diagnosis of Pompe disease in Russian patients is proposed.

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Laboratory studies and Pompe disease: from suspicion to therapy monitoring

Cited by 3 publications

References 31 publications

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

CRIM-negative infantile Pompe disease, long-term observation of the effect of enzyme replacement therapy: a clinical case

Selective screening and molecular characteristics of Russian patients with Pompe disease

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