Exploration of Digestive Diseases

From: Familial achalasia isolated or syndromic: about 18 families

Table 2. Comparison between IFA and AFA

Parameters	AFA	IFA
Etiology	Mutations AAAS 12q13	Multifactorial Genetic? Environment?
Disease	Multisystemic	Esophagus
Frequency	5 times	1 time
Consanguinity	73.2%	15.2%
Disease transmission	Horizontal only siblings	Horizontal/vertical siblings
Prognosis	Autonomic abnormalities Adrenal insufficiency	Good
PD	Low long-term remission

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?: not proven as an etiological factor (remains hypothetical)

Declarations

Author contributions

AT: Conceptualization, Resources, Data curation, Formal analysis, Supervision, Funding acquisition, Validation, Investigation, Visualization, Methodology, Writing—original draft, Project administration, Writing—review & editing. FB: Resources, Formal analysis, Investigation, Visualization, Methodology, Writing—review & editing. MEAB: Resources, Investigation. ML: Resources, Investigation. NO: Resources, Investigation.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

An ethical approval was obtained and the protocol of the study was approved by the hospital ethical committee.

Consent to participate

Informed consent to participate in the study was obtained from all participants.

Consent to publication

Informed consent to publication was obtained from relevant participants.

Availability of data and materials

The datasets of this study can be found in Tebaibia’s data base, and can be shared on demand.

Funding

Not applicable.

Copyright

References

Cotran RS, Kumar V, Collins T. Robbins Pathologic basis of disease. 6th ed. Philadelphia: WB Saunders; 1999. [DOI]

Park W, Vaezi MF. Etiology and pathogenesis of achalasia: the current understanding. Am J Gastroenterol. 2005;100:1404–14. [DOI] [PubMed]

Bosher LP, Shaw A. Achalasia in siblings. Clinical and genetic aspects. Am J Dis Child. 1981;135:709–10. [DOI] [PubMed]

Annese V, Napolitano G, Minervini MM, Perri F, Ciavarella G, Di Giorgio G, et al. Family occurrence of achalasia. J Clin Gastroenterol. 1995;20:329. [DOI] [PubMed]

Chawla K, Chawla SK, Alexander LL. Familial achalasia of the esophagus in mother and son: a possible pathogenetic relationship. J Am Geriatr Sor. 1979;27:519–21. [DOI] [PubMed]

Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978;311:1284–6. [DOI] [PubMed]

Torab FC, Hamchou M, Ionescu G, Al-Salem AH. Familial achalasia in children. Pediatr Surg Int. 2012;28:1229–33. [DOI] [PubMed]

Gordillo-González G, Guatibonza YP, Zarante I, Roa P, Jacome LA, Hani A. Achalasia familiar: report of a family with an autosomal dominant pattern of inherence. Dis Esophagus. 2011;24:e1–4. [DOI] [PubMed]

Monnig PJ. Familial achalasia in children. Ann Thorac Surg. 1990;49:1019–22. [DOI] [PubMed]

10.

Zimmerman FH, Rosensweig NS. Achalasia in a father and son. Am J Gastroenterol. 1984;79:506–8. [PubMed]

11.

Frieling T, Berges W, Borchard F, Lübke HJ, Enck P, Wienbeck M. Family occurrence of achalasia and diffuse spasm of the oesophagus. Gut. 1988;29:1595–602. [DOI] [PubMed] [PMC]

12.

Westley CR, Herbst JJ, Goldman S, Wiser WC. Infantile achalasia; inherited as an autosomal recessive disorder. J Pediatr. 1975;87:243–6. [DOI] [PubMed]

13.

Evsyutina YV, Trukhmanov AS, Ivashkin VT. Family case of achalasia cardia: case report and review of literature. World J. 2014;20:1114–8. [DOI] [PubMed] [PMC]

14.

Raj S. Rajan GV. Familial esophageal achalasia in mother and son. Int J Res Med Sci. 2013;1:142–4. [DOI]

15.

Chawla K, Chawla SK, Alexander LL. Familial achalasia of the esophagus in mother and son: a possible pathogenetic relationship. J Am Geriatr Soc. 1979;11:519–21. [DOI] [PubMed]

16.

Mackler D, Schneider R. Achalasia in father and son. Dig Dis Sci. 1978;23:1042–5. [DOI] [PubMed]

17.

Kilpatrick ZM, Milles SS. Achalasia in mother and daughter. Gastroenterology. 1972;62:1042–6. [PubMed]

18.

Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet. 2000;26:332–5. [DOI] [PubMed]

19.

Tebaibia A, Boudjella MA, Boutarene D, Benmediouni F, Brahimi H, Oumnia N. Incidence, clinical features and para-clinical findings of achalasia in Algeria: experience of 25 years. World J Gastroenterol. 2016;22:8615–23. [DOI] [PubMed] [PMC]

20.

Tebaibia A, Boudjella MA, Lahcene M, Benmediouni F, Oumnia N. Genotypic heterogeneity and clinical features in Allgrove syndrome: about 78 cases. United European Gastroenterol J. 2013;1 Suppl 1:A27. [DOI] [PMC]

21.

Motamed F, Modaresi V, Eftekhari K. Familial achalasia, a case report. Iran J Pediatr. 2010;20:233–6. [PubMed] [PMC]

22.

Ferguson TB, Burford TH. An evaluation of the modified Heller operation in the treatment of achalasia of the esophagus. Ann Surg. 1960;152:1–9. [DOI] [PubMed] [PMC]