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Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). I - Ricerche sui fattori ereditari del reumatismo acuto primario

Published online by Cambridge University Press:  01 August 2014

G. G. Neri Serneri  and
V. Bartoli
G. G. Neri Serneri
Affiliation:
Istituto di Semeiotica Medica dell'Università di Firenze, Centro di Genetica Medica
V. Bartoli
Affiliation:
Istituto di Semeiotica Medica dell'Università di Firenze, Centro di Genetica Medica

Summary

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This study is based on pedigrees of 287 patients with Rheumatic Fever, which are compared with pedigrees of 300 controls: 11,7 per cent of all relatives in the first group had rheumatic fever, compared to 2,2 per cent of all relatives in the control group.

An hereditary predisposition to rheumatic fever is definitevely to be admitted.

This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity.

It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesi of degenerative connective tissue disorders mesenchymotic diathesis.

Riassunto

RIASSUNTO

Dall'esame di 287 famiglie con probando affetto da reumatismo acuto primario, e di 300 famiglie di controllo, gli AA. concludono per l'esistenza di un fattore ereditario nel reumatismo acuto. Su di un totale di 2475 membri delle 287 famiglie reumatiche, esclusi i probandi, si osserva una incidenza di RAP pari all'11,7%, mentre nelle famiglie di controllo tale incidenza scende al 2,2%. La predisposizione al reumatismo acuto primario è condizionata alla presenza di un gene principale autosomico, dominante, con penetranza ridotta ed espressività variabile.

Il gene principale sembra agire trasmettendo una particolare reattività dei connettivi, che costituisce il fondamento patogenetico del processo reumatico; la sua penetranza e la sua espressività, sotto forma di reumatismo acuto primario, sono condizionata alla presenza di altri fattori ereditari e all'intervento di fattori esogeni.

La predisposizione al reumatismo acuto primario non sembra avere alcun rapporto genetico con la diatesi allergica e con la diatesi mesenchimosica.

Résumé

RÉSUMÉ

Après l'examen de 287 familles avec un sujet affecté de rhumatisme aigu primaire (maladie de Bauilland) et de 300 familles de contrôle, les AA. concluent pour l'existence d'une prédisposition héréditaire au rhumatisme aigu primaire.

Cette prédisposition est liée à la présence d'un gène principal autosomique, dominant avec defaut de pénétrance et avec une expressivité variable.

La prédisposition au rhumatisme aigu primaire ne semble avoir aucune relation génétique avec la diathèse allergique et avec la diathèse mésenchymotique.

Zusammenfassung

ZUSAMMENFASSUNG

Die V. auf Grund von 287 Familien der Probanden mit akuten primären Gelenkrheumatismus, und von 300 Kontrollfamilien, beweisen das Bestehen einer erbbedingten Prädisposition zum akuten primären Gelenkrheumatismus. Diese Prädisposition ist abhänging von der Anwesenheit eines autosomischen dominanten Hauptgen. mit verkleinert Penetranz und veränderlicher Expressivität.

Die Prädisposition zum akuten Gelenkrheumatismus scheint keine genetische Beziehung mit allergischer und mesenchymotischer Diathese zu haben.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 5 , Issue 2 , May 1956 , pp. 155 - 189
Copyright
Copyright © The International Society for Twin Studies 1956

References

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