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DOI 10.1136/bmjopen-2020-037909

Медицинская библиотека · BMJ open · 2020

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

Green Joshua D, Barohn Richard J, Bartoccion Emanuela, Benatar Michael, Blackmore Derrick, Chaudhry Vinay, Chopra Manisha, Corse Andrea, Dimachkie Mazen M, Evoli Amelia, Florence Julaine, Freimer Miriam, Howard James F, Jiwa Theresa, Kaminski Henry J, Kissel John T, Koopman Wilma J, Lipscomb Bernadette, Maestri Michelanglo, Marino Mariapaola, Massey Janice M, McVey April, Mezei Michelle M, Muppidi Srikanth, Nicolle Michael W, Oger Joel, Pascuzzi Robert M, Pasnoor Mamatha, Pestronk Alan, Provenzano Carlo, Ricciardi Roberta, Richman David P, Rowin Julie, Sanders Donald B, Siddiqi Zaeem, Soloway Aimee, Wolfe Gil I, Wulf Charlie, Drachman Daniel B, Traynor Bryan J

СтатьяResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАОбзорПеревод в очереди

Аннотация

OBJECTIVES

To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.

DESIGN

Retrospective cohort study.

SETTING

Clinics across North America.

PARTICIPANTS

The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis.

METHODS

Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed.

RESULTS

Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members.

DISCUSSION: The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

Для цитирования: Green Joshua D, Barohn Richard J, Bartoccion Emanuela, Benatar Michael, Blackmore Derrick, Chaudhry Vinay, Chopra Manisha, Corse Andrea, Dimachkie Mazen M, Evoli Amelia, Florence Julaine, Freimer Miriam, Howard James F, Jiwa Theresa, Kaminski Henry J, Kissel John T, Koopman Wilma J, Lipscomb Bernadette, Maestri Michelanglo, Marino Mariapaola, Massey Janice M, McVey April, Mezei Michelle M, Muppidi Srikanth, Nicolle Michael W, Oger Joel, Pascuzzi Robert M, Pasnoor Mamatha, Pestronk Alan, Provenzano Carlo, Ricciardi Roberta, Richman David P, Rowin Julie, Sanders Donald B, Siddiqi Zaeem, Soloway Aimee, Wolfe Gil I, Wulf Charlie, Drachman Daniel B, Traynor Bryan J. Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.. BMJ open. 2020. DOI: 10.1136/bmjopen-2020-037909.

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