Literature DB >> 22584989

Allgrove syndrome.

Fatih Kilicli1, Fettah Acibucu, Soner Senel, Hatice Sebila Dokmetas.   

Abstract

Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome.

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Year:  2012        PMID: 22584989

Source DB:  PubMed          Journal:  Singapore Med J        ISSN: 0037-5675            Impact factor:   1.858


  3 in total

1.  Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome.

Authors:  Jun Nakamura; Takuto Hikichi; Haruhiro Inoue; Ko Watanabe; Hitomi Kikuchi; Tadayuki Takagi; Rei Suzuki; Mitsuru Sugimoto; Naoki Konno; Yuichi Waragai; Hiroyuki Asama; Mika Takasumi; Yuki Sato; Hiroki Irie; Katsutoshi Obara; Hiromasa Ohira
Journal:  Clin J Gastroenterol       Date:  2018-01-30

2.  Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report.

Authors:  Hashem A AlOmran; Fadi Busaleh; Zahra Alhashim; Manal AlHelal; Yasen Alsaleh; Aida AlJabri; Zahra A AlGhadeer; Fatimah Y AlHejji; Mousa AlMazeedi; Abdulelah M Al Dandan
Journal:  Cureus       Date:  2021-11-06

3.  Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Authors:  Etienne Leveille; Hernan D Gonorazky; Marie-France Rioux; Lili-Naz Hazrati; Jennifer A Ruskey; Amanda Carnevale; Dan Spiegelman; Alexandre Dionne-Laporte; Guy A Rouleau; Grace Yoon; Ziv Gan-Or
Journal:  Mol Genet Genomic Med       Date:  2018-10-31       Impact factor: 2.183

  3 in total

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