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Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
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Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience

Rajni Sharma1, Kakali Roy1, Amit Kumar Satapathy2

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Indian Pediatrics
|January 7, 2022
PubMed

Insights

Effective medical management of congenital hyperinsulinism (CHI) in Indian children, including genetic diagnosis and treatments like octreotide, leads to good quality of life and neurological outcomes.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Clinical Pharmacology

Background:

  • Limited data exists on congenital hyperinsulinism (CHI) management in India.
  • Congenital hyperinsulinism (CHI) is a rare condition causing severe hypoglycemia in newborns.

Purpose of the Study:

  • To investigate the molecular diagnosis, medical management, and outcomes of children with CHI in India.
  • To assess the effectiveness of various medical treatments for CHI.

Main Methods:

  • An ambispective study was conducted on 42 children with CHI admitted between December 2011 and March 2020.
  • Clinical and genetic profiles were analyzed, alongside treatment responses and outcomes.

Main Results:

  • Genetic mutations were identified in 68.2% of patients, with ABCC8 being the most commonly affected gene.
  • Diazoxide responsiveness was observed in 54.7% of cases. Octreotide showed good response in diazoxide-unresponsive patients.
  • Long-acting octreotide allowed for tapering of daily doses in some patients. Sirolimus had variable responses and was often discontinued due to adverse effects.

Conclusions:

  • Medical management of CHI is effective, leading to improved quality of life and neurological outcomes.
  • Optimal management, particularly for patients with identifiable genetic defects, is crucial for favorable neurodevelopment.
  • Ensuring patient compliance with medical regimens is key to successful CHI treatment outcomes.
Abstract

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