SFEBES2008 Poster Presentations Clinical practice/governance and case reports (86 abstracts)
1Altnagelvin Area Hospital, Western Health and Social Care Trust, Londonderry, UK; 2Northern Ireland Regional Genetics Service and 3Regional Centre for Endocrinology and Diabetes, Belfast Health and Social Care Trust, Belfast, UK.
APS I is a rare condition with autosomal recessive inheritance. We report a series of three sisters (Table 1), affected by APS I, who all had a mutation of the autoimmune regulator (AIRE) gene. An index case (A) died at 26 years old due to vascular complications.
The management of primary hypoparathyroidism in case A, who also had type I diabetes was also complicated by nephrocalcinosis, renal calculi, chronic renal failure and vascular calcification. In the last year of her life she developed digital ischaemia of her fingers and gangrene of her left foot that led to her premature death.
Conclusion: Regulation of calcium homeostasis is challenging in APS I. While nephrocalcinosis is well recognised, vascular calcification and ischaemia in this syndrome has not been widely reported. Careful monitoring of calcium homeostasis is recommended in APS I, particularly for those with type I diabetes who are already at increased risk of vascular calcification.
Phenotype | A | B | C |
Mucocutaneous candidiasis | + | + | + |
Oesophageal candidiasis | + | + | |
Primary hypoparathyroidism | + | + | + |
Primary adrenal insufficiency | + | + | + |
Pernicious anaemia | + | + | |
Vitiligo | + | + | |
Type I diabetes mellitus | + | + | |
Premature ovarian failure | + | + | + |
Pancreatic exocrine insufficiency | + | + |