Literature DB >> 21073617

Achalasia familiar: report of a family with an autosomal dominant pattern of inherence.

G Gordillo-González1, Y P Guatibonza, I Zarante, P Roa, L A Jacome, A Hani.   

Abstract

Esophageal achalasia is a well-known pathology with an autosomal recessive pattern of inherence described in the familiar cases. Its principal symptom is dysphagia, secondary to the poor relaxation of the lower esophageal sphincter. Chagas disease is one of the many causes involved in the development of this disease, being of great importance in our country because of the high prevalence of the vector. Various syndromes include achalasia in their symptomatology, such as the triple A syndrome or Allgrove syndrome (Addisonianism, achalasia, and alacrimia). We reported a family with a classical autosomal pattern of inherence with six affected members, four men and two women, with achalasia diagnosis as well as esophagus cancer in two of them, secondary to the disease, and no other findings.
© 2010 Copyright the Authors. Journal compilation © 2010, Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

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Year:  2010        PMID: 21073617     DOI: 10.1111/j.1442-2050.2010.01124.x

Source DB:  PubMed          Journal:  Dis Esophagus        ISSN: 1120-8694            Impact factor:   3.429


  3 in total

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3.  Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.

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Journal:  Sci Rep       Date:  2016-08-11       Impact factor: 4.379

  3 in total

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