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Singapore medical journal ; : e92-4, 2012.
Artigo em Inglês | WPRIM | ID: wpr-334477

RESUMO

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.


Assuntos
Feminino , Humanos , Adulto Jovem , Insuficiência Adrenal , Sangue , Diagnóstico , Genética , Hormônio Adrenocorticotrópico , Sangue , Diagnóstico Diferencial , Técnicas de Diagnóstico Oftalmológico , Endoscopia Gastrointestinal , Acalasia Esofágica , Sangue , Diagnóstico , Genética , Mutação , Proteínas do Tecido Nervoso , Sangue , Genética , Complexo de Proteínas Formadoras de Poros Nucleares , Sangue , Genética
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