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 12q13, 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.
Sarathi
Vijaya
V
Department of Endocrinology, King Edward Memorial Hospital, Parel, Mumbai, India.
Shah
Nalini S
NS
D000309:Adrenal Insufficiency / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000818:Animals; D025063:Chromosome Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000378:metabolism; D004931:Esophageal Achalasia / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006854:Hydrocortisone; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D028861:Nuclear Pore Complex Proteins / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone