Lysosomal storage diseases. Sphingolipidoses – leukodystrophy
- 作者: Gorbunova V.N.1, Buchinskaia N.V.2,3, Vechkasova A.O.3, Kruglova V.S.3
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隶属关系:
- Saint Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation
- Saint Petersburg State Pediatric Medical University
- Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
- 期: 卷 14, 编号 6 (2023)
- 页面: 89-112
- 栏目: Наследственные болезни обмена
- URL: https://journals.eco-vector.com/pediatr/article/view/626382
- DOI: https://doi.org/10.17816/PED626382
- ID: 626382
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详细
Epidemiological, clinical, biochemical and molecular-genetic characteristics of lysosomal leukodystrophies are presented, which include metachromatic leukodystrophy, globoid cell leukodystrophy, or Krabbe disease, combined saposin and multiple sulfatase deficiency. The pathogenesis of metachromatic and globoid cell leukodystrophy is based on hereditary deficiency of two lysosomal enzymes — arylsulfatase A and galactocerebrosidase, accompanied by excessive accumulation of galactosphingosulfatides and galactosylceramide, respectively. The consequence of this is demyelination of the central and peripheral nervous system and damage to the white matter of the brain. Experimental models show effectiveness of pathogenetic approaches, such as hematopoietic stem cell transplantation and gene therapy, only if treatment is started before the development of severe neurological anomalies. In this regard, neonatal screening methods for these two forms of leukodystrophy are being developed, which have been particularly successful in the early diagnosis of Krabbe disease. For each of the two leukodystrophies (metachromatic and globoid cell), rare genetic variants have been described due to the absence of activator proteins for arylsulfatase A and galactocerebrosidase (saposins B and C), respectively, due to specific mutations in the gene of the precursor of saposins, prosaposin (PSPA). Mutations in the PSPA gene resulting in the absence of all four saposins (A, D, C and D) are the cause of combined saposin deficiency, characterized by the development of severe neurological disorders soon after birth and death before the age of 1 year. The pathogenesis of multiple sulfatase deficiency is based on the accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates, caused by inactivating mutations in the SUMF1 gene of the sulfatase-modifying factor 1 involved in the biosynthesis of all sulfatases. The disease is characterized by a combined manifestation of metachromatic leukodystrophy and mucopolysaccharidosis in combination with severe neurological disorders, mental retardation, sensorineural hearing loss and ichthyosis. Clinical guidelines for the diagnosis, management and therapy of combined saposin and multiple sulfatase deficiency have not yet been developed. The article presents a description of a clinical case of Krabbe disease in a child observed in the medical genetic center of St. Petersburg.
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作者简介
Victoria Gorbunova
Saint Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation
编辑信件的主要联系方式.
Email: vngor@mail.ru
PhD, Professor, Department of Medical Genetics
俄罗斯联邦, Saint PetersburgNatalia Buchinskaia
Saint Petersburg State Pediatric Medical University; Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Email: nbuchinskaia@gmail.com
ORCID iD: 0000-0002-2335-3023
SPIN 代码: 4820-4246
MD, PhD pediatrician, Assistant at the Department of Hospital Pediatrics; geneticist, Consulting Department
俄罗斯联邦, Saint Petersburg; Saint PetersburgAnastasia Vechkasova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Email: vechkasova.nastia@mail.ru
ORCID iD: 0009-0004-8775-9630
SPIN 代码: 2642-3514
General Practitioner, Geneticist, Consulting Department
俄罗斯联邦, Saint PetersburgVarvara Kruglova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Email: varvara-kruglova@mail.ru
ORCID iD: 0009-0008-2648-3772
Geneticist, Consulting Department
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