Literature DB >> 17180297

Unusual presentation of triple A syndrome mimicking Sjögren's syndrome.

Ahmet Mesut Onat1, Yavuz Pehlivan, Hakan Buyukhatipoglu, Yusuf Ziya Igci, Yusuf Ziya, Seydi Okumus, Cemile Arikan, Sibel Oguzkan.   

Abstract

Triple A syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Sjögren's syndrome (SS) is a chronic inflammatory disorder manifested primarily by diminished lacrimal and salivary gland secretions, resulting in symptoms of dry eyes and dry mouth, the so-called "sicca complex". However, a variety of other manifestations also can occur, which can be termed "nonexocrine manifestations". One of the frequent nonexocrine manifestations is dysphagia. In this paper, we present an unusual form of Triple A disease mimicking Sjögren's syndrome, which leads to a challenging diagnosis.

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Year:  2006        PMID: 17180297     DOI: 10.1007/s10067-006-0498-5

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN: 0770-3198            Impact factor:   2.980


  11 in total

1.  Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Authors:  K Handschug; S Sperling; S J Yoon; S Hennig; A J Clark; A Huebner
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

2.  Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

Authors:  C Goizet; B Catargi; F Tison; A Tullio-Pelet; S Hadj-Rabia; F Pujol; A Lagueny; S Lyonnet; D Lacombe
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

3.  Adrenal insufficiency after achalasia in the triple-A syndrome.

Authors:  M Phillip; E Hershkovitz; H Schulman
Journal:  Clin Pediatr (Phila)       Date:  1996-02       Impact factor: 1.168

4.  Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia.

Authors:  R Lanes; L P Plotnick; T E Bynum; P A Lee; J F Casella; C E Fox; A A Kowarski; C J Migeon
Journal:  J Clin Endocrinol Metab       Date:  1980-02       Impact factor: 5.958

5.  The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Authors:  Angela Huebner; A M Kaindl; K P Knobeloch; H Petzold; P Mann; K Koehler
Journal:  Endocr Res       Date:  2004-11       Impact factor: 1.720

6.  Mutant WD-repeat protein in triple-A syndrome.

Authors:  A Tullio-Pelet; R Salomon; S Hadj-Rabia; C Mugnier; M H de Laet; B Chaouachi; F Bakiri; P Brottier; L Cattolico; C Penet; M Bégeot; D Naville; M Nicolino; J L Chaussain; J Weissenbach; A Munnich; S Lyonnet
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

7.  New insights into the molecular basis of the triple A syndrome.

Authors:  A Huebner; A M Kaindl; R Braun; K Handschug
Journal:  Endocr Res       Date:  2002-11       Impact factor: 1.720

8.  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.

Authors:  J Allgrove; G S Clayden; D B Grant; J C Macaulay
Journal:  Lancet       Date:  1978-06-17       Impact factor: 79.321

9.  Proteomic analysis of the mammalian nuclear pore complex.

Authors:  Janet M Cronshaw; Andrew N Krutchinsky; Wenzhu Zhang; Brian T Chait; Michael J Matunis
Journal:  J Cell Biol       Date:  2002-08-26       Impact factor: 10.539

10.  Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Authors:  Brian P Brooks; Robert Kleta; Rafael C Caruso; Caroline Stuart; Jonathan Ludlow; Constantine A Stratakis
Journal:  BMC Ophthalmol       Date:  2004-06-24       Impact factor: 2.209

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  2 in total

1.  Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Authors:  Hiren Patt; Katrin Koehler; Sailesh Lodha; Swati Jadhav; Chaitanya Yerawar; Angela Huebner; Kunal Thakkar; Sneha Arya; Sandhya Nair; Manjunath Goroshi; Hosahithlu Ganesh; Vijaya Sarathi; Anurag Lila; Tushar Bandgar; Nalini Shah
Journal:  Endocr Connect       Date:  2017-11       Impact factor: 3.335

2.  Triple A syndrome (Allgrove syndrome): improving outcomes with a multidisciplinary approach.

Authors:  Myrto Eleni Flokas; Michael Tomani; Levon Agdere; Brande Brown
Journal:  Pediatric Health Med Ther       Date:  2019-08-29
  2 in total

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