Limited diagnostic facilities impeding the therapeutic approach of Mucopolysaccharidosis in Bangladesh: a case report.
J Int Med Res
; 50(6): 3000605221106412, 2022 Jun.
Article
in En
| MEDLINE
| ID: mdl-35726580
ABSTRACT
In resource-constrained settings, mucopolysaccharidosis (MPS) is a rare hereditary metabolic illness that frequently remains undiagnosed. We present a scenario that illustrates the challenges in diagnosing and managing MPS because of test inaccessibility, and we propose potential approaches to minimize the hurdles. We recommend that physicians anticipate a rare genetic disease, such as MPS, based on the clinical history findings from routine radiological investigations. Additionally, stakeholders should perform risk stratification and implement screening tests as soon as possible to ensure that patients are effectively enrolled in treatment programs.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Physicians
/
Mucopolysaccharidoses
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
J Int Med Res
Year:
2022
Document type:
Article
Affiliation country:
Bangladesh