Triple A Syndrome
| Classification according to ICD-10 | |
|---|---|
| E27.4 | Other and unspecified adrenal insufficiency |
| ICD-10 online (WHO version 2019) | |
The triple A syndrome is a very rare congenital disease with the simultaneous occurrence of adrenocortical insufficiency ( Addison's disease ), achalasia and a lack of tear fluid formation ( alacrima ).
Synonyms are: Allgrove syndrome; 2A syndrome; 3A syndrome; 4A syndrome; AAA syndrome; Achalasia-Addisonism-Alacrimia Syndrome
The name refers to the first author of the first description from 1978 by J. Allgrove and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far almost 100 affected people have been described. Inheritance is autosomal - recessive .
root cause
The disease are mutations in the AAAS - gene on chromosome 12 locus q13.13 basis that a protein in the nuclear pore complex coded.
Clinical manifestations
Clinical criteria are:
- Lack of tear fluid, usually first noticeable
- Achalasia with eating and nutrition disorder
- Adrenal insufficiency, possibly with hypoglycaemia and seizures
- autonomic dysfunction (blood pressure and body temperature, increased sweating)
- Anisocoria
- Peripheral neuropathy
literature
- V. Sarathi, NS Shah: Triple-A syndrome. In: Advances in Experimental Medicine and Biology . Vol. 685, 2010, pp. 1-8, PMID 20687490 (review).
- K. Nakamura, K. Yoshida, T. Yoshinaga, M. Kodaira, Y. Shimojima, Y. Takei, H. Morita, K. Kayanuma, S. Ikeda: Adult or late-onset triple A syndrome: case report and literature review . In: Journal of the neurological sciences. Vol. 297, No. 1-2, October 2010, pp. 85-88, doi: 10.1016 / j.jns.2010.07.006 , PMID 20674935 (review).
Individual evidence
- ↑ a b c Triple A syndrome. In: Orphanet (Rare Disease Database).
- ^ Emedicine Medscape
- ^ J. Allgrove, GS Clayden, DB Grant, JC Macaulay: Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. In: The Lancet . Vol. 1, No. 8077, June 1978, pp. 1284-1286, PMID 78049 .
- ↑ Achalasia-addisonianism-alacrimia syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b Entry on triple A syndrome in Flexikon , a wiki from DocCheck
