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234477

Gaucher disease: Recent advances in the diagnosis and management.

Article

Last updated: 22 Jan 2023

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Abstract

Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. Gaucher disease is an inborn error of metabolism that affects the recycling of cellular glycolipids. This disease is a consequence of deficiency of the enzyme glucocerebrosidase. It causes bone pain, anemia, enlarged organs, painful belly and bruising and bleeding problems. There are many types of Gaucher disease, all cause similar symptoms in the organs and bones. Some forms of the disease also affect the brain. There is no cure for Gaucher disease, but a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Enzyme replacement therapy is the primary form of treatment for Gaucher disease.

DOI

10.21608/mjvh.2022.234477

Keywords

Gaucher disease, glucocerebrosidase, Enzyme replacement therapy and hepatosplenomegaly

Authors

First Name

Fetouh

Last Name

Hassanin

MiddleName

-

Affiliation

Pediatrics, Misr International University, Cairo, Egypt

Email

fhassanin@aim.com

City

Cairo

Orcid

0000-0001-7668-6211

First Name

Azza

Last Name

Abbas

MiddleName

Hasan

Affiliation

Medical Parasitology, Immunology and Microbiology Department, National Hepatology and Tropical Medicine Research Institute (NHTMI), Cairo, Egypt

Email

azzahas17@gmail.com

City

-

Orcid

-

First Name

Mona

Last Name

Schalaan

MiddleName

-

Affiliation

Clinical Pharmacy department (Biochemistry), Misr International University, Cairo, Egypt.

Email

mona.schaalan@miuegypt.edu.eg

City

-

Orcid

-

First Name

Mohamed

Last Name

Rabea

MiddleName

-

Affiliation

Department of Pediatric Gastroenterology, National Hepatology and Tropical Medicine Research Institute (NHTMI), Cairo, Egypt.

Email

egyrabea2012@gmail.com

City

-

Orcid

0000-0002-5556-4124

Volume

6.2

Article Issue

2

Related Issue

33736

Issue Date

2022-04-01

Receive Date

2022-04-11

Publish Date

2022-04-01

Page Start

6

Page End

10

Print ISSN

2314-8748

Online ISSN

2314-8756

Article File

MJVH_Volume 6.2_Issue 2_Pages 6-10.pdf

PDF . 180.4kB

Link

https://mjvh.journals.ekb.eg/article_234477.html

Detail API

https://mjvh.journals.ekb.eg/service?article_code=234477

Order

3

Type

Review articles

Type Code

404

Publication Type

Journal

Publication Title

Medical Journal of Viral Hepatitis

Publication Link

https://mjvh.journals.ekb.eg/

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Article

Created At

22 Jan 2023