肝脾肿大是罕见(孤儿)疾病:戈谢病的表现

Q4 Medicine

Pediatriya - Zhurnal im G.N. Speranskogo Pub Date : 2023-04-21 DOI:10.24110/0031-403x-2023-102-2-124-129

T. A. Bokova

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引用次数: 0

摘要

肝脾肿大发生在许多疾病中。不同专业的医生在实践中经常遇到这种情况。它是一些罕见病(孤儿病)的主要临床症状，特别是戈谢病。文章详细描述了这种与溶酶体贮积病相关的遗传性疾病，并介绍了其现代诊断和治疗特点。本文报道1例6岁儿童肝脾肿大患者，经综合实验室和仪器检查方法诊断为戈谢病1型，并给予病原酶替代治疗。

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HEPATOSPLENOMEGALY AS A MANIFESTATION OF RARE (ORPHAN) DISEASES: GAUCHER DISEASE

Hepatosplenomegaly occurs in many diseases. Physicians of various specialties often encounter it in their practice. It is the main clinical symptom in a number of rare (orphan) diseases and in Gaucher disease, in particular. A detailed description of this hereditary disease related to lysosomal storage diseases is presented in the Article as well as its modern diagnostic and treatment features. A clinical case of a six y/o pediatric patient with hepatosplenomegaly who was diagnosed with Gaucher disease type 1 based on a complex of laboratory and instrumental examination methods and prescribed with pathogenetic enzyme replacement therapy is observed.

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来源期刊

Pediatriya - Zhurnal im G.N. Speranskogo Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.60

自引率

0.00%

发文量

150

期刊介绍： Journal “Pediatria” named after G.N. Speransky (the official short names of the Journal are “Journal «Pediatria»,” “Pediatria,” and “«Pediatria,» the Journal”) is the oldest Soviet-and-Russian (in the Russian Federation, the CIS and former Soviet Union) scientific and practical medical periodical assigned for pediatricians that is published continuously since May, 1922, and distributed worldwide. Our mission statement specifies that we aim to the ‘raising the level of skills and education of pediatricians, organizers of children’s health protection services, medicine scientists, lecturers and students of medical institutes for higher education, universities and colleges worldwide with an emphasis on Russian-speaking audience and specific, topical problems of children’s healthcare in Russia, the CIS, Baltic States and former Soviet Union Countries and their determination with the use of the World’s best practices in pediatrics.’ As part of this objective, the Editorial of the Journal «Pediatria» named after G.N. Speransky itself adopts a neutral position on issues treated within the Journal. The Journal serves to further academic discussions of topics, irrespective of their nature - whether religious, racial-, gender-based, environmental, ethical, political or other potentially or topically contentious subjects. The Journal is registered with the ISSN, - the international identifier for serials and other continuing resources, in the electronic and print world: ISSN 0031-403X (Print), and ISSN 1990-2182 (Online). The Journal was founded by the Academician, Dr. Georgiy Nestorovich SPERANSKY, in May, 1922. Now (since 1973) the Journal bears his honorary name.