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Case Reports: Rare disease
Neonatal diabetes with a rare LRBA mutation
  1. Arti Yadav1,
  2. Rakesh Kumar1,
  3. Amit Rawat2 and
  4. Radha Venkatesan3
  1. 1Endocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
  2. 2Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh, India
  3. 3Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India
  1. Correspondence to Prof Rakesh Kumar; drrakesh.pgi{at}gmail.com

Abstract

Neonatal diabetes mellitus (NDM) is characterised by onset of persistent hyperglycaemia within the first 6 months of life. NDM is frequently caused by a mutation in a single gene affecting pancreatic beta cell function. We report an infant, born to a non-consanguineous couple, who presented with osmotic symptoms and diabetic ketoacidosis. The genetic analysis showed a mutation in LRBA (lipopolysaccharide-responsive and beige-like anchor protein) gene. We highlight the importance of considering genetic analysis in every infant with NDM, to understand the nature of genetic mutation, associated comorbidities, response to glibenclamide and future prognosis.

  • Endocrinology
  • Diabetes
  • Genetics

http://dx.doi.org/10.1136/bcr-2022-250243

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    Footnotes

    • Contributors RK and AY were involved in the clinical management of case, conception of work, acquisition and drafting of work. RV contributed in the genetic analysis of index child and parents. AR guided the further laboratory work-up done. RK and AY were involved in drafting the manuscript and revising it critically for important intellectual content. All authors have read the manuscript and approved it for final submission. All authors have agreed to be accountable for all aspect of the work in ensuring that questions related to accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.