Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.
Indian Pediatr
; 59(2): 105-109, 2022 Feb 15.
Article
em En
| MEDLINE
| ID: mdl-34992182
ABSTRACT
BACKGROUND:
There is limited data from India regarding medical management of congenital hyperinsulinism (CHI).OBJECTIVE:
To study the molecular diagnosis, medical management and outcomes of children with CHI. STUDYDESIGN:
Ambispective.PARTICIPANTS:
Children with CHI admitted in from December, 2011 till March, 2020 at a tertiary care referral hospital.OUTCOMES:
Clinical and genetic profile, treatment, and response.RESULTS:
42 children with a median age of 3 days (range 1 day to 6 years) were enrolled, of which 23 (54.7%) were diazoxide-responsive. Mutations were identified in 28 out of 41 (68.2%) patients. The commonest gene affected was ABCC8 in 22 patients. The pathogenic variant c.331G>A in ABCC8 gene was identified in 6 unrelated cases from one community. Good response to daily octreotide was seen in 13 of the 19 (68.4%) diazoxide-unresponsive patients. Monthly long-acting octreotide was initiated and daily octreotide could be stopped or tapered in 9 patients. Sirolimus was tried with variable response in 6 patients but was discontinued in 5 due to adverse effects. Four patients had focal CHI, of which one underwent partial pancreatic resection. The disease severity reduced with age and neurodevelopment was good in the patients with identifiable genetic defects who were optimally managed.CONCLUSIONS:
Medical management of CHI is effective, if compliance can be ensured, with good quality of life and neurological outcomes.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Qualidade de Vida
/
Hiperinsulinismo Congênito
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Aspecto:
Patient_preference
Limite:
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Indian Pediatr
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Índia