Aaas
Aaas
Aaas (Achalasia-Addisonianism-Alacrima syndrome) is a rare autosomal recessive disorder characterized by adrenal insufficiency, alacrima, and achalasia. It is also known as Triple-A syndrome or Allgrove syndrome.
Symptoms
The primary symptoms of Aaas include:
- Achalasia: A condition that affects the esophagus, making it difficult for food and liquid to pass into the stomach.
- Addisonianism: Also known as Addison's disease, it is a disorder that occurs when the body produces insufficient amounts of certain hormones produced by adrenal glands.
- Alacrima: A condition characterized by a reduced or absent tear production.
Causes
Aaas is caused by mutations in the AAAS gene. This gene provides instructions for making a protein called Aladin that is involved in nuclear pore complexes, which transport molecules into and out of the nucleus.
Diagnosis
Diagnosis of Aaas is based on the presence of the three main features of the syndrome. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Aaas is symptomatic and supportive. It may include medications for adrenal insufficiency, dilation or surgery for achalasia, and artificial tears for alacrima.
Prognosis
The prognosis for individuals with Aaas varies. Some individuals have a normal lifespan with close monitoring and medical treatment.
See also
References
External links
- Medical encyclopedia article on Aaas
- Wikipedia's article - Aaas
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