Literature DB >> 24574786

Family case of achalasia cardia: case report and review of literature.

Yulia Viktorovna Evsyutina1, Alexander Sergeevich Trukhmanov1, Vladimir Trophimovich Ivashkin1.   

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.

Entities:  

Keywords:  Achalasia cardia; Dysphagia; Gastrostomy; Gene polymorphism; Regurgitation

Mesh:

Year:  2014        PMID: 24574786      PMCID: PMC3921537          DOI: 10.3748/wjg.v20.i4.1114

Source DB:  PubMed          Journal:  World J Gastroenterol        ISSN: 1007-9327            Impact factor:   5.742


  16 in total

1.  Achalasia and Down's syndrome: coincidental association or something else?

Authors:  N Zárate; F Mearin; J M Gil-Vernet; F Camarasa; J R Malagelada
Journal:  Am J Gastroenterol       Date:  1999-06       Impact factor: 10.864

2.  Achalasia and thyroid disease.

Authors:  Mohammad Hassan Emami; Mostafa Raisi; Jaleh Amini; Hamed Daghaghzadeh
Journal:  World J Gastroenterol       Date:  2007-01-28       Impact factor: 5.742

3.  Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families.

Authors:  Damini Jawaheer; Michael F Seldin; Christopher I Amos; Wei V Chen; Russell Shigeta; Carol Etzel; Aarti Damle; Xiangli Xiao; Dong Chen; Raymond F Lum; Joanita Monteiro; Marlene Kern; Lindsey A Criswell; Salvatore Albani; J Lee Nelson; Daniel O Clegg; Richard Pope; Harry W Schroeder; S Louis Bridges; David S Pisetsky; Ryk Ward; Daniel L Kastner; Ronald L Wilder; Theodore Pincus; Leigh F Callahan; Donald Flemming; Mark H Wener; Peter K Gregersen
Journal:  Arthritis Rheum       Date:  2003-04

Review 4.  Etiology and pathogenesis of achalasia: the current understanding.

Authors:  Woosuk Park; Michael F Vaezi
Journal:  Am J Gastroenterol       Date:  2005-06       Impact factor: 10.864

5.  Mutant WD-repeat protein in triple-A syndrome.

Authors:  A Tullio-Pelet; R Salomon; S Hadj-Rabia; C Mugnier; M H de Laet; B Chaouachi; F Bakiri; P Brottier; L Cattolico; C Penet; M Bégeot; D Naville; M Nicolino; J L Chaussain; J Weissenbach; A Munnich; S Lyonnet
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

6.  Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.

Authors:  Mark van Oene; Richard F Wintle; Xiangdong Liu; Mehrdad Yazdanpanah; Xiangjun Gu; Bill Newman; Albert Kwan; Benjamin Johnson; Julie Owen; Wenda Greer; Dianne Mosher; Walter Maksymowych; Ed Keystone; Laurence A Rubin; Christopher I Amos; Katherine A Siminovitch
Journal:  Arthritis Rheum       Date:  2005-07

7.  Association between achalasia and nitric oxide synthase gene polymorphisms.

Authors:  Fermín Mearin; María-Asunción García-González; Michael Strunk; Natalia Zárate; Juán-Ramón Malagelada; Angel Lanas
Journal:  Am J Gastroenterol       Date:  2006-07-18       Impact factor: 10.864

8.  Gender-specific association of the PTPN22 C1858T polymorphism with achalasia.

Authors:  Jose Luis Santiago; Alfonso Martínez; M Soledad Benito; Antonio Ruiz de León; Juan Luis Mendoza; Miguel Fernández-Arquero; M Angeles Figueredo; Emilio G de la Concha; Elena Urcelay
Journal:  Hum Immunol       Date:  2007-08-28       Impact factor: 2.850

Review 9.  Down syndrome and the enteric nervous system.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2008-07-17       Impact factor: 1.827

Review 10.  Pathogenesis of achalasia cardia.

Authors:  Uday C Ghoshal; Sunil B Daschakraborty; Renu Singh
Journal:  World J Gastroenterol       Date:  2012-06-28       Impact factor: 5.742

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  3 in total

Review 1.  Updated Systematic Review of Achalasia, with a Focus on POEM Therapy.

Authors:  Mitchell S Cappell; Stavros Nicholas Stavropoulos; David Friedel
Journal:  Dig Dis Sci       Date:  2019-08-27       Impact factor: 3.199

Review 2.  Idiopathic (primary) achalasia: a review.

Authors:  Dhyanesh A Patel; Hannah P Kim; Jerry S Zifodya; Michael F Vaezi
Journal:  Orphanet J Rare Dis       Date:  2015-07-22       Impact factor: 4.123

3.  Simultaneous diagnosis of familial achalasia: report of two cases.

Authors:  Masato Hoshino; Nobuo Omura; Fumiaki Yano; Se Ryung Yamamoto; Minoru Matsuda; Katsuhiko Yanaga
Journal:  Surg Case Rep       Date:  2017-05-08
  3 in total

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