title: Achalasia familiar: report of a family with an autosomal dominant pattern of inherence.
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.
authors.affiliation: Instituto de Genética Humana, Pontificia Universidad Javeriana Servicio de Gastroenterología, Departamento de Medicina Interna, Hospital San Ignacio, Pontificia Universidad Javeriana, Bogotá, DC, Colombia. gordillog@javeriana.edu.co
authors.forename: G
authors.initials: G
authors.lastname: Gordillo-González
authors.forename: Y P
authors.initials: YP
authors.lastname: Guatibonza
authors.forename: I
authors.initials: I
authors.lastname: Zarante
authors.forename: P
authors.initials: P
authors.lastname: Roa
authors.forename: L A
authors.initials: LA
authors.lastname: Jacome
authors.forename: A
authors.initials: A
authors.lastname: Hani
mesh_terms: D000328:Adult; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree