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Six year old with autoimmune polyglandular syndrome: can genetics tell us the story?

Steven Ghanny1, Robert Wallerstein, Amy Chartoff

  • 1Molly Center for Children, Hackensack University Medical Center, Hackensack, NJ, USA. sghanny@hotmail.com

Journal of Pediatric Endocrinology & Metabolism : JPEM
|September 23, 2010
PubMed

Insights

Children with type 1 diabetes (DMT1) face higher risks for autoimmune conditions like Addison's disease. Genetic screening for HLA haplotypes could identify at-risk children, enabling early diagnosis and treatment.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Type 1 diabetes (DMT1) is an autoimmune condition associated with an increased risk of other autoimmune disorders.
  • Associated conditions include Hashimoto's thyroiditis, Graves' disease, Celiac disease, and Addison's disease.
  • Addison's disease, if undiagnosed, can be fatal.

Observation:

  • A 6-year-old male with DMT1 presented with adrenal crisis.
  • The patient was diagnosed with Addison's disease.
  • The patient later tested positive for the HLA-DRB1 404/DR4 haplotype, a gene associated with Addison's disease in children with DMT1.

Findings:

  • The HLA-DRB1 404/DR4 haplotype is implicated in the development of Addison's disease in pediatric patients with DMT1.
  • Current practice does not routinely include genetic testing for associated conditions in DMT1 patients.

Implications:

  • Genetic testing of associated HLA haplotypes could serve as a screening tool for Addison's disease in children with DMT1.
  • Early identification of at-risk individuals can facilitate timely diagnosis and intervention, potentially preventing life-threatening adrenal crisis.

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