title: Family case of achalasia cardia: case report and review of literature.
abstract: Achalasia cardia is an idiopathic disease that occurs as a result of inflammation and degeneration of myenteric plexi leading to the loss of postganglionic inhibitory neurons required for relaxation of the lower esophageal sphincter and peristalsis of the esophagus. The main symptoms of achalasia are dysphagia, regurgitation, chest pain and weight loss. At present, there are three main hypotheses regarding etiology of achalasia cardia which are under consideration, these are genetic, infectious and autoimmune. Genetic theory is one of the most widely discussed. Case report given below represents an inheritable case of achalasia cardia which was not diagnosed for a long time in an 81-year-old woman and her 58-year-old daughter.
authors.affiliation: Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Moscow 119991, Russian Federation.
authors.forename: Yulia Viktorovna
authors.initials: YV
authors.lastname: Evsyutina
authors.affiliation: Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Moscow 119991, Russian Federation.
authors.forename: Alexander Sergeevich
authors.initials: AS
authors.lastname: Trukhmanov
authors.affiliation: Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Moscow 119991, Russian Federation.
authors.forename: Vladimir Trophimovich
authors.initials: VT
authors.lastname: Ivashkin
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D019299:Decompression, Surgical / Q000379:methods; D018450:Disease Progression; D004931:Esophageal Achalasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D005774:Gastrostomy; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008365:Manometry; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D016896:Treatment Outcome; D055815:Young Adult
keywords: Achalasia cardia; Dysphagia; Gastrostomy; Gene polymorphism; Regurgitation