| Triple-A syndrome. | |
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MedLine Citation:
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PMID: 20687490 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Vijaya Sarathi; Nalini S Shah |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Advances in experimental medicine and biology Volume: 685 ISSN: 0065-2598 ISO Abbreviation: Adv. Exp. Med. Biol. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-08-06 Completed Date: 2010-08-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0121103 Medline TA: Adv Exp Med Biol Country: United States |
Other Details:
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Languages: eng Pagination: 1-8 Citation Subset: IM |
Affiliation:
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Department of Endocrinology, King Edward Memorial Hospital, Parel, Mumbai, India. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Insufficiency*
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drug therapy,
genetics,
metabolism,
pathology Adrenocorticotropic Hormone / metabolism Animals Chromosome Disorders* / genetics, metabolism, pathology Chromosomes, Human, Pair 12* / genetics, metabolism Esophageal Achalasia* / drug therapy, genetics, metabolism, pathology Humans Hydrocortisone Mutation, Missense Nerve Tissue Proteins* / genetics, metabolism Nuclear Pore Complex Proteins* / genetics, metabolism Point Mutation Syndrome |
| Chemical | |
Reg. No./Substance:
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0/AAAS protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins; 50-23-7/Hydrocortisone; 9002-60-2/Adrenocorticotropic Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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