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Case report
Monogenic diabetes mellitus in cystic fibrosis
  1. Hoong-Wei Gan1,2,
  2. Jayesh Mahendra Bhatt3,
  3. Louise Denvir1,
  4. Tabitha Randell1,
  5. Pooja Sachdev1
  1. 1 Department of Paediatric Endocrinology, Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK
  2. 2 Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK
  3. 3 Department of Paediatric Respiratory Medicine, Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK
  1. Correspondence to Dr Hoong-Wei Gan, University College London Great Ormond Street Institute of Child Health Genetics & Genomic Medicine Programme, London WC1N 1EH, UK; hoong.gan.11{at}ucl.ac.uk

Abstract

We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (ΔF508/R117H;IVS8-5T). A detailed history revealed family members from three successive generations diagnosed with ‘type 1’ or ‘type 2’ diabetes, leading to genetic investigations for monogenic DM. A heterozygous frameshift mutation in the hepatocyte nuclear factor 1 homeobox alpha (HNF1A) gene (c.404delA) was subsequently confirmed in all three siblings, which is known to cause monogenic diabetes and is exquisitely sensitive to sulfonylurea therapy. Following this diagnosis, both siblings with CF and HNF1A monogenic diabetes were started on gliclazide therapy, while their older brother who had been wrongly diagnosed with type 1 diabetes was switched from insulin to gliclazide, all with excellent therapeutic responses.

  • cystic fibrosis
  • diabetes
  • endocrinology
  • paediatric practice
  • respiratory

https://doi.org/10.1136/archdischild-2018-316141

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    Footnotes

    • Contributors H-WG obtained informed consent, drafted the initial manuscript, and reviewed and revised the final manuscript for publication. JMB, LD, TR and PS reviewed and revised the final manuscript for publication. All authors were involved in the multidisciplinary care of this family, approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

    • 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.

    • Competing interests None declared.

    • Patient consent Obtained.

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