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Permanent neonatal diabetes due to KCNJ11 gene mutation

S Letha1, Darly Mammen, Joseph J Valamparampil

  • 1Department of Pediatrics, Government Medical College, Kottayam, Kerala, India. drletha@gmail.com

Indian Journal of Pediatrics
|November 6, 2007
PubMed

Insights

Permanent neonatal diabetes mellitus (PNDM) is a rare condition diagnosed in the first six months of life. A mutation in the KCNJ11 gene can cause PNDM, and patients may benefit from oral sulfonylurea drugs instead of insulin.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Permanent neonatal diabetes mellitus (PNDM) is defined by diabetes onset within the first six months of life, necessitating lifelong insulin therapy.
  • Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel (KATP), are the most frequent genetic cause of PNDM.
  • Patients with KCNJ11 mutations may exhibit a favorable response to oral sulfonylurea drugs, offering an alternative to insulin treatment.

Observation:

  • This report details a rare case of permanent neonatal diabetes mellitus.
  • The patient presented with a specific mutation, R201C, within the KCNJ11 gene.

Findings:

  • The R201C mutation in the KCNJ11 gene was identified as the cause of PNDM in this patient.
  • This finding reinforces the link between KCNJ11 gene mutations and the pathogenesis of PNDM.

Implications:

  • This case highlights the importance of genetic testing in diagnosing PNDM.
  • Identifying KCNJ11 mutations can guide treatment strategies, potentially enabling the use of oral sulfonylureas over insulin.
  • Further research into KCNJ11 mutations may reveal new therapeutic targets for neonatal diabetes.

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