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

Simple item page
dc.contributor.authorSharma, Rajnien_US
dc.contributor.authorRoy, Kakalien_US
dc.contributor.authorSatapathy, Amit Kumaren_US
dc.contributor.authorKumar, Anilen_US
dc.contributor.authorNanda, Pamali Mahaswetaen_US
dc.contributor.authorDamle, Nishikanten_US
dc.contributor.authorHoughton, Jayne ALen_US
dc.contributor.authorFlanagan, Sarah Een_US
dc.contributor.authorRadha, Venkatesanen_US
dc.contributor.authorMohan, Viswanathanen_US
dc.contributor.authorJain, Vandanaen_US
dc.date.accessioned2023-08-25T06:39:27Z
dc.date.available2023-08-25T06:39:27Z
dc.date.issued2022-02
dc.description.abstractBackground: 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 diazoxideresponsive. 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.en_US
dc.identifier.affiliationsDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, Indiaen_US
dc.identifier.affiliationsDepartment of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Orissa, Indiaen_US
dc.identifier.affiliationsDepartment of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, Indiaen_US
dc.identifier.affiliationsGenomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UKen_US
dc.identifier.affiliationsInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UKen_US
dc.identifier.affiliationsDepartment of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, Indiaen_US
dc.identifier.citationSharma Rajni, Roy Kakali, Satapathy Amit Kumar, Kumar Anil, Nanda Pamali Mahasweta, Damle Nishikant, Houghton Jayne AL, Flanagan Sarah E, Radha Venkatesan, Mohan Viswanathan, Jain Vandana. Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience. Indian Pediatrics. 2022 Feb; 59(2): 105-109en_US
dc.identifier.issn0079-6061
dc.identifier.issn0974-7559
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225289
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber2en_US
dc.relation.volume59en_US
dc.source.urihttps://indianpediatrics.net/feb2022/105.pdfen_US
dc.subjectABCC8 geneen_US
dc.subjectDiazoxideen_US
dc.subjectHypoglycemiaen_US
dc.subjectOctreotideen_US
dc.subjectSirolimusen_US
dc.titleMolecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experienceen_US
dc.typeJournal Articleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
IP2022v59n2p105.pdf
Size:
181.81 KB
Format:
Adobe Portable Document Format
Download
Collections
Indian Pediatrics