Triple-A syndrome.

[triple a syndrome]

Triple-A syndrome is characterized by triad of adrenocorticotrophic hormone (ACTH )-resistant adrenal insufficiency , alacrimia and achalasia cardia . It is a rare disease and inherited by autosomal recessive pattern . Allgrove syndrome is characterized by mutation (s ) in AAAS gene , located on chromosome 12 q 13 , that codes for ALADIN protein . Most mutations produce a truncated protein , although missense and point-mutations have also been reported . Some patients with Triple-A syndrome may not have mutations in AAAS gene ; in those there is no specific genotype-phenotype correlation . Although alacrimia is not the usual presenting manifestation , probably it is the earliest and most consistent feature . Achalasia cardia and adrenal insufficiency are the early and usual presenting manifestations . Neurological features appear at later age and autonomic manifestations are the most common neurological disorder . Polyneuropathy , amyotrophy , optic atrophy are the other common neurological problems . Alacrimia is diagnosed by Schirmer 's test while ahalasia cardia and adrenal insufficiency are best diagnosed by esophageal monometry and ACTH stimulated cortisol levels respectively . Alacrimia is treated with artificial tears while achalasia cardia with either pneumatic dilatation or Heller 's myotomy . Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement .