Sulfonylurea-responsive diabetes in childhood

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Neonatal diabetes mellitus (NDM) is a rare condition.
• Mutations in the KCNJ11 gene are a known cause of permanent and transient NDM.
• Familial forms of NDM can present with varying phenotypes.

Purpose of the Study:

• To report a family with transient, relapsing neonatal diabetes.
• To investigate the genetic basis of diabetes in this family.
• To evaluate the efficacy of sulfonylurea treatment in affected individuals.

Main Methods:

• Clinical case description of a family with multiple affected members.
• Genetic analysis to identify mutations in the KCNJ11 gene.
• Assessment of glycemic control and treatment response (insulin vs. sulfonylurea).

Main Results:

• Three siblings presented with transient, relapsing neonatal diabetes.
• The father and another sibling had diabetes diagnosed later in life (20 and 9 years old).
• All affected family members shared the same KCNJ11 gene mutation.
• Sulfonylurea treatment led to the cessation of insulin therapy and improved glycemic control in all treated individuals.

Conclusions:

• The KCNJ11 gene mutation can cause a spectrum of diabetes phenotypes within a family, including transient neonatal and later-onset forms.
• Sulfonylureas are an effective treatment for KCNJ11-related diabetes, offering an alternative to insulin therapy.
• Genetic testing is crucial for diagnosing and guiding treatment in familial diabetes cases.