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Inherited Forms of Diabetes

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Prof Nihal Thomas    27 November 2019

  • Separation of other forms of young-onset diabetes from inherited forms should be primarily sought.
  • Delineating a Pedigree chart with an insight into other syndromes pattern of inheritance (autosomal dominant, autosomal recessive and mitochondrial) is critical.
  • C-peptide measurements are cost-effective and critical in placing the origin of the disorder.
  • Imaging of the abdomen to look for pancreatic pathology, other abdominal disorders and DXA scan to assess body composition are useful, depending on the disorder.
  • Next-generation sequencing (NGS) technology is critical in identifying genetic disorders in a cost-effective and rapid manner.
  • Interpreting NGS reports requires a thorough background of previous mutations. Testing and replication of results from family members with matching phenotypes are critical for novel variants.

It is important to distinguish other forms of young-onset diabetes from inherited forms. NGS technology is the key to identify genetic disorders rapidly.

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