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| Triple-A syndrome ： ウィキペディア英語版 |
Triple-A syndrome
Triple-A syndrome (AAA), also known as Achalasia-Addisonianism-Alacrimia syndrome or Allgrove syndrome, is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it. The syndrome was discovered by Jeremy Allgrove and colleagues in 1978. Triple A stands for achalasia-addisonianism-alacrima syndrome. Alacrima is usually the earliest manifestation. It is a progressive disorder that can take years to develop the full blown clinical picture.〔
==Characteristics==
Individuals affected by AAA have adrenal insufficiency/Addison's disease due to ACTH resistance, alacrima (absence of tear secretion), and achalasia (a failure of a ring of muscle fibers, such as a sphincter, to relax) of the lower esophageal sphincter at the cardia which delays food going to the stomach and causes dilation of the thoracic esophagus. There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. Hypoglycemia (low blood sugar) is often mentioned as an early sign. The disorder has also been associated with mild mental retardation.〔
The syndrome is highly variable. Managed effectively, affected individuals can have a normal lifespan and bear children.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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