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2023•PEDIATRIA Journal named after G N SPERANSKYRequires access

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

Т. А. Бокова

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Abstract

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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What this paper is about

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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Available abstract

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.

Key concepts: Hepatosplenomegaly, Medicine, Enzyme replacement therapy, Disease, Orphan drug, Rare disease, Gaucher's disease, Pediatrics

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