ea0015p85 | Clinical practice/governance and case reports | SFEBES2008
Wallace Ian
, McConnell Vivienne
, Bell Patrick
, Lindsay John
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 ...