Screening, diagnosis and treatment of Fabry disease

Karovaikina, Ekaterina; Moiseev, A.; Bulanov, Nikolai; Nosova, N.; Kuchieva, Agunda; Новиков, П. В.; Моисеев, С.В.

doi:10.32756/0869-5490-2019-3-68-74

Cited by 3 publications

(5 citation statements)

References 30 publications

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“…Российский кардиологический журнал 2022; 27 (7) Болезнь Фабри (БФ) -наследственное заболевание с X-сцепленным доминантным типом наследования с неполной пенетрантностью у женщин, относящееся к группе лизосомных болезней накопления. Первичным патогенетическим звеном является дефицит фермента α-галактозидазы А (α-Gal A), что приводит к внутриклеточному накоплению гликосфинголипидов, в частности глоботриаозилцерамида (Gb3) и глоботриаозилсфингозина (Lyso-Gb3) в лизосомах клеток различных органов и тканей, включая сердце [1,2].…”

Section: Discussionunclassified

“…Поражение сердца при БФ является прогностически неблагоприятным проявлением и причиной смерти [1,2]. В настоящее время в Российской Федерации выявлено всего ~350 пациентов с БФ, включая взрослых и детей, хотя этот показатель составляет, вероятно, не >15% от их истинного количества [3].…”

Section: Discussionunclassified

“…Уже поздние проявления: признаки ХСН, манифестация НРС (ФП, желудочковая тахикардия), внезапная сердечная смерть. Данные признаки отмечаются у 40-60% пациентов с БФ [1,2].…”

Section: Discussionunclassified

“…Важен и семейный скрининг. Подтверждение диагноза у одного нового пациента позволяет выявить в среднем 5 пациентов с БФ в этой же семье [2,5,8].…”

Section: Discussionunclassified

“…1 , Назаренко Л. П. 2 , Попов С. В. 1 Поражение сердца при болезни Фабри (БФ) является прогностически неблагоприятным проявлением и причиной смерти.…”

Section: клинический случай диагностики болезни фабри в аритмологичес...unclassified

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Diagnostics of Fabry disease in arrhythmology practice: a case report

et al. 2022

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Heart failure in Fabry disease (FD) is unfavorable prognostic manifestation and cause of death. Given that the disease is rare in clinical practice, the low awareness of physicians about this pathology leads to its late diagnosis and the lack of pathogenetic therapy.Aim. To present a clinical picture of the cardiovascular phenotype in FD in order to increase the awareness of doctors about this disease.Material and methods. In this clinical case, an asymptomatic FD course up to 46 years of age and mani festation in the form of arrhythmia were observed. According to echo car dio graphy, severe left ventricular hypertrophy (myocardial mass index, 214 g/m2) without signs of left ventricular (LV) outflow tract obstruction and left atrial (LA) dilatation were revealed (LA volume index — 47 ml/m2). Right ventricular (RV) and LV systolic function was assessed using two-dimensional speckletracking strain echocardiography. Latent subclinical RV and LV systolic dysfunction was established.Results. Tandem mass spectrometry revealed a sharp decrease in alphagalactosidase activity of 0,03 umol/L/h (norm range, 0,80-15,00 umol/L/h), as well as an in creased Lyso-GB3 concentration of 95,18 ng/ml (normal range, 0,05-3,0 ng/ ml). A molecular genetic study of blood samples was carried out. By direct automatic sequencing of the GLA gene, a variant of the c.1229 C>T nucleotide sequence was identified, leading to the replacement of p.Thr4101le in the hemizygous state.Conclusion. This case shows the possibility and expediency of diagnosing FD in cardiology practice in patients with LV myocardial hypertrophy of unclear etiology, while atypical variants can be diagnosed only by molecular genetic testing.

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Section: Discussionunclassified

Section: клинический случай диагностики болезни фабри в аритмологичес...unclassified

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Diagnostics of Fabry disease in arrhythmology practice: a case report

et al. 2022

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Modern Approach to Fabry Disease Diagnosis and Management in Children

Smirnova,

Vashakmadze,

Karaseva

et al. 2024

Vopr. sovr. pediatr.

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Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopathy. Biochemical tests, molecular genetic testing, and family screening play crucial role in the diagnosis of the disease. Specific pathogenetic treatment of FD includes enzyme replacement therapy (ERT) with recombinant medications of the lysosomal enzyme -galactosidase A. ERT initiation before the development of severe organs and systems’ damage contributes to its higher efficacy. This article covers various aspects of pathogenesis, clinical picture features in childhood, modern methods of diagnosis and management of FD according to literature data.

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Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases

et al. 2022

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Sphingolipidoses are genetically heterogeneous group of rare monogenic metabolic diseasesб caused by inherreted deficiency of enzymes involved in the degradation of sphingolipids. Sphingolipids are catabolized in lysosomes, where glycohydrolases degrade them by separation of terminal sugars to core ceramide. All sphingolipidoses are characterized by abnormal deposition of a large amount of sphingolipids and other unsplit products of lipid metabolism, mainly in parenchymal organs, bone marrow and brain. Among sphingolipidoses, such groups of diseases as glycosphingolipidoses, gangliosidoses and leukodystrophies are distinguished. This review presents the epidemiology, clinical, biochemical and molecular characteristics of the three main types of glycosphingolipidoses Fabry disease, Gaucher disease and Farber disease, caused by the mutations in the genes of -galactosidase A (GLA), glucocerebrosidase (GBA) and acid ceramidase (ASAH1), respectively. Currently, there is an increased interest in glycosphingolipidoses due to the identification of the spectrum and frequencies of mutations in the GLA, GBA and ASAH1 genes in various populations, including Russia, and the practical availability of individual molecular diagnostic methods. A description of the existing experimental models, their role in the study of the biochemical basis of the pathogenesis of these severe hereditary diseases and the development of various therapeutic approaches are given. We discuss, firstly, the possibility of early diagnosis of Fabry disease, Gaucher and Farber based on neonatal screening and examination of high risk groups of patients in order to improve the effectiveness of their prevention and treatment, as well as (secondly) the advantages and disadvantages of the main approaches to the treatment of these serious diseases, such as bone marrow and hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, gene therapy and genome editing.

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Screening, diagnosis and treatment of Fabry disease

Cited by 3 publications

References 30 publications

Diagnostics of Fabry disease in arrhythmology practice: a case report

Diagnostics of Fabry disease in arrhythmology practice: a case report

Modern Approach to Fabry Disease Diagnosis and Management in Children

Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases

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