TY - JOUR
T1 - Achalasia familiar
T2 - Report of a family with an autosomal dominant pattern of inherence
AU - Gordillo-González, G.
AU - Guatibonza, Y. P.
AU - Zarante, I.
AU - Roa, P.
AU - Jacome, L. A.
AU - Hani, A.
PY - 2011/1
Y1 - 2011/1
N2 - SUMMARY: 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.
AB - SUMMARY: 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.
KW - Achalasia
KW - Dominant genetic conditions
KW - Esophageal achalasia
KW - Esophagus
KW - Familiar esophageal achalasia
UR - http://www.scopus.com/inward/record.url?scp=79551592788&partnerID=8YFLogxK
U2 - 10.1111/j.1442-2050.2010.01124.x
DO - 10.1111/j.1442-2050.2010.01124.x
M3 - Article
C2 - 21073617
AN - SCOPUS:79551592788
SN - 1120-8694
VL - 24
SP - E1-E4
JO - Diseases of the Esophagus
JF - Diseases of the Esophagus
IS - 1
ER -