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Related Experiment Video

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Preparation of Mouse Pituitary Immunogen for the Induction of Experimental Autoimmune Hypophysitis
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Recalcitrant hypocalcaemia in autoimmune enteropathy.

Myfanwy Geyer1, Jan Fairchild2, David Moore3

  • 1Departments of Endocrinology and Diabetes, myfanwy.geyer@health.sa.gov.au.

Pediatrics
|November 19, 2014
PubMed
Summary

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Syndrome (APECED) involves autoimmune destruction of tissues. This case highlights the benefit of immunosuppression for managing gastrointestinal issues and improving hypocalcemia in APECED patients.

Keywords:
APECEDAPS-1autoimmune enteropathyautoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndromeautoimmune polyendocrinopathy syndrome 1enteroendocrine cellshypocalcaemia

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Area of Science:

  • Endocrinology
  • Immunology
  • Genetics

Background:

  • Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Syndrome (APECED) is a rare monogenic autoimmune disorder.
  • It is characterized by the autoimmune destruction of endocrine and non-endocrine tissues, with a classic triad of candidiasis, hypoparathyroidism, and Addison disease.
  • Gastrointestinal manifestations occur in up to 25% of patients, complicating disease management.

Observation:

  • A challenging case of APECED with concurrent hypoparathyroidism, Addison disease, and autoimmune enteropathy is presented.
  • Management of hypocalcemia was difficult and largely unsuccessful.
  • Introduction of immunosuppressive therapy for autoimmune enteropathy led to improved hypocalcemia control.

Findings:

  • The interplay between autoimmune manifestations and their treatments in APECED can be complex.
  • Immunosuppressive therapy can be effective in managing gastrointestinal complications of APECED.
  • Successful management of autoimmune enteropathy positively impacted the control of hypocalcemia.

Implications:

  • Early consideration of immunosuppressive therapy should be part of the management strategy for APECED patients with gastrointestinal involvement.
  • This case underscores the importance of addressing autoimmune enteropathy for overall APECED patient care.
  • Further research into the role of immunosuppression in APECED-associated gastrointestinal disorders is warranted.