Genetic Disorders in Pediatric Rheumatology Clinic: When to Suspect, and Why?
Indian J Pediatr
; 2023 Sep 22.
Article
in En
| MEDLINE
| ID: mdl-37736825
ABSTRACT
Just under a decade ago, most children with genetic disorders received a phenotypic diagnosis, often by atlas matching. With advances in genomics (decoding of human genome, easy availability of genetic testing, and reduction in cost of tests), genotypic diagnosis is now a reality. Genetic diseases can lead to non-inflammatory arthritis that can mimic juvenile idiopathic arthritis (JIA). A small but growing number (as newer genes are discovered) of genetic diseases are being diagnosed in children with a seemingly inflammatory musculoskeletal diseases or connective tissue diseases. A high index of suspicion by the pediatrician is most important for early diagnosis of these genetic disorders. In a busy outpatient clinic, it is the atypical presentation of a disease in a child that suggests a possibility of underlying genetic autoinflammatory or autoimmune disease. Correct diagnosis helps the physician, child, parent, and community.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Screening_studies
Language:
En
Journal:
Indian J Pediatr
Year:
2023
Type:
Article
Affiliation country:
India