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    Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience

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    URI
    https://rde.dspace-express.com/handle/11287/622384
    Author
    Sharma, R.
    Roy, K.
    Satapathy, A. K.
    Kumar, A.
    Nanda, P. M.
    Damle, N.
    Houghton, J. A. L.
    Flanagan, S. E.
    Radha, V.
    Mohan, V.
    Jain, V.
    Date
    2022-01-05
    Journal
    Indian pediatrics
    Type
    Journal Article
    Publisher
    Springer
    DOI
    10.1097/MOP.0000000000000645.
    Rights
    Copyright© 1999-2022 Indian Pediatrics
    Metadata
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    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. STUDY DESIGN: 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.
    Citation
    Indian Pediatr. 2022 Jan 5:S097475591600386.
    Publisher URL
    https://www.indianpediatrics.net/feb2022/105.pdf
    Note
    Not held
    Collections
    • 2022 Eastern publications
    • Clinical School publications
    • Paediatrics (children and young people)

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