Achalasia familiar : report of a family with an autosomal dominant pattern of inherence
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Date
2011-01Les auteurs
Gordillo Gonzalez, GiselGuatibonza, Yeinny Pilar
Zarante, Ignacio
Roa, Paola
Jacome, L. A.
Hani, A.
Auteur(s) d'entreprise
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
Type
Artículo de revista
ISSN
1120-8694 / 1442-2050
Des pages
E1-E4
Type d'élément
Reporte de caso
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Abstrait
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
Keywords
AchalasiaDominant genetic conditions
Esophageal achalasia
Esophagus
Fmiliar esophageal achalasia
Lien vers la ressource
https://apps-webofknowledge-com.ezproxy.javeriana.edu.co/full_record.do?product=WOS&search_mode=GeneralSearch&qid=38&SID=8Ei8uehaOVWNEWhnnRL&page=1&doc=1Origine
Diseases of the Esophagus; Vol. 24 Núm. 1 (2011)
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