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266315

Physical features of Patients with Mucopolysaccharidoses and other correlated laboratorial examinations

Article

Last updated: 01 Jan 2025

Subjects

-

Tags

Pediatrics

Abstract

Background: Mucopolysaccharidoses (MPS) are genetic disorders of the catabolism of glycosaminoglycans (GAGs). MPS are categorized into different types; each type is caused by a deficiency in the activity of a specific lysosomal enzyme required for GAG degradation[1]. This study was designed to identify the physical features, assay the enzymatic deficiency and examine the hematological pictures in patients with different types of MPS. Methods: This cross-sectional study was conducted on 16 MPS patients, in the Pediatric department at Zagazig University Hospitals. Results: The age of children in the studied groups ranged between 7 to 17 years, height ranged between 88 to 120 cm, and weight range of 15 to 29 Kg but without statistically significant difference. There is statistically significant relation between type of MPS and urinary GACs. On doing Tukey HSD test, the ‎difference is significant between type I and II. Also, between type II and IV-A. However, type IV-A did not differ from type VI or I‎. There is statistically significant relation between type of MPS and mental delay. Only patients with type I and II had mental delay.‎ There is statistically non-significant difference between the studied groups with different types of MPS regarding ‎complete blood count except ‎platelet and lymphocytic count. There is statistically non-significant difference between the studied groups with different types of MPS regarding liver function tests. Conclusion: Diagnostic enzymatic assay in combination with different diagnostic tools as case history, physical features, hematological examination and liver function tests are essential for correct diagnosis and early interference

DOI

10.21608/zumj.2022.164738.2648

Keywords

physical features, Mucopolysaccharidoses, Hematological investigations

Authors

First Name

Mahmoud

Last Name

Salem Mohamed

MiddleName

Husseini

Affiliation

Department of Pediatrics, Faculty of Medicine – Zagazig University, Zagazig, Sharkia, Egypt

Email

mahmoud_salem606@yahoo.com

City

-

Orcid

-

First Name

Rabab

Last Name

Elbehedy

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine – Zagazig University, Zagazig, Sharkia, Egypt

Email

elbehedyr@yahoo.com

City

-

Orcid

-

First Name

Mohamed

Last Name

Beshir

MiddleName

Refaat

Affiliation

Department of Pediatrics, Faculty of Medicine – Zagazig University, Zagazig, Sharkia, Egypt

Email

moh_besher74@yahoo.com

City

-

Orcid

-

Volume

30

Article Issue

3

Related Issue

46681

Issue Date

2024-05-01

Receive Date

2022-09-25

Publish Date

2024-05-01

Page Start

731

Page End

738

Print ISSN

1110-1431

Online ISSN

2357-0717

Link

https://zumj.journals.ekb.eg/article_266315.html

Detail API

https://zumj.journals.ekb.eg/service?article_code=266315

Order

13

Type

Original Article

Type Code

273

Publication Type

Journal

Publication Title

Zagazig University Medical Journal

Publication Link

https://zumj.journals.ekb.eg/

MainTitle

Physical features of Patients with Mucopolysaccharidoses and other correlated laboratorial examinations

Details

Type

Article

Created At

30 Dec 2024