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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

Bibliografia

Anderson, H. C., Kunkel, H. G., Mc Carty, M.: Quantitative anti-streptokinase studies in patients infected with group A hemolytic streptococci, etc. J. Clin. Invest. 27, 425, 1948.CrossRefGoogle Scholar
Azzena, L.: Familiarità e costituzione nella malattia reumatica nell'infanzia. Atti del XX congr. it. ped. 1949 vol. II. pg. 448.Google Scholar
Barbensi, G.: Introduzione alla biometria. Ed. Vallecchi. Firenze, 1952.Google Scholar
Bartels, E. D.: Heredity in Grave's. Disease Copenhagen, 1941, pg. 384.Google Scholar
Beadle, G. W.: Genetic control of biochemical reactions. Harvey Lectures 40, 179, 1945.Google Scholar
Beers, C. V.: Four generations of rheumatic heart disease. Hereditas suppl. 35, 534, 1948.Google Scholar
Bonner, D. M.: Combined staff clinics: insborn errors of metabolism. Am. J. Med. 8, 90, 1950.Google Scholar
Brandt, G., Weihe, F. A.: Polyarthritis rheumatica bei Zwillingen. Z. menschl. Vererb. u. Konstit. lehre 23, 169, 1939.Google Scholar
Brandt, G., Weihe, F. A.: Der Erbeinfluss bei Polyarthritis rheumatica (Zwillingsuntersuchungen). Z. menschl. Vererb. u. Konstit. lehre 27, 199, 1934.Google Scholar
Bauer, J.: Costitution and disease. N. York, 1947.Google Scholar
Brogi, G., Verrotti, M.: Alcune osservazioni sulla malattia reumatica con particolare riguardo alla frequenza nella provincia di Siena e alla terapia. Atti XX congr. It. Ped. 1949 vol. II pg. 410.Google Scholar
Claussen, F.: Erbfragen bei rheumatischen Krankheiten. Ztschr. Indukt. Abstam. Vererb. Lehre 73, 541, 1937.Google Scholar
Claussen, F., Steiner, F.: Die bedeutung der Konstitution für die Erkrankung an Gelenkrheumatismus. Verh. dtsch. Ges. inn. Med. 229, 1938.Google Scholar
Commission on acute respiratory disease: A study of a food borne epidemic of tonsillitis and pharingitis due to beta hemolytic streptococcus typed. Bull. J. Hopk. Hosp. 77, 143, 1945.Google Scholar
Coste, F.: Le rheumatisme. Etudes cliniques et thérapeutiques. Expansion Scientifique Française. Paris, 1951.Google Scholar
Debre, R., Mozziconacci, P., Nouaille, J.: Elements du diagnostic de la maladie de Bouillaud. Arch. mal coer. vaiss. 48, 76, 1955.Google Scholar
Draper, G., Seegal, D.: The importance to the clinician of the study of genetics. Genetic survey of 50 families with acute rheumatic fever. Eugen. News 8, 63, 1923.Google Scholar
Faulkner, J. M., White, P. D.: The incidence of rheumatic fever corea and rheumatic heart disease. J.A.M.A. 83, 425, 1924.Google Scholar
Ferlazzo, A., Scarsella, L.: Indagine clinico epidemiologica sulla malattia reumatica a Messina. Atti XX Congr. It. Ped. 1949, vol. II pg. 370.Google Scholar
Ford, E. B.: Genetica. Longanesi edit. Milano 1948.Google Scholar
Frontali, G.: La disposizione costituzionale della malattia reumatica. Atti XX Congr. It. Ped. 1949, vol. II pg. 284.Google Scholar
Gauld, R. L., Read, F. E. M.: Studies of rheumatic disease. II familial association and aggregation in rheumatic disease. J. Clin. Invest. 19, 393, 1940.CrossRefGoogle Scholar
Gedda, L.: Studio dei gemelli. Ed. Orizzonte medico. Roma, 1951.Google Scholar
Gray, F. G., Quinn, R. W., Quinn, J. P.: Along term survey of rheumatic and non rheumatic families. Whit particular reference to environment and heredity. Am. J. Med. 13, 400, 1952.Google Scholar
Griffith, G. C., Moore, F.J., Mc Ginn, S., Cosby, R. S.: The familial incidence of rheumatic fever. Am. Heart. J. 35, 438, 1948.CrossRefGoogle ScholarPubMed
Gudzent, : Gicht und Rheumatismus. Berlino, 1928.Google Scholar
Gunther, M., Penrose, L. S.: The genetics of epiloia. J. Gen. 31, 413, 1935.CrossRefGoogle Scholar
Hanhart, E.: In Handbuch der Erbbiologie des Menschen. Vol. II. J. Springer ed. Berlino, 1940.Google Scholar
Hangarter, W.: Erbliche Disposition bei chronischer Arthritis. Z. menschl. Vererb. u. Konstit. lehre 16, 244, 1931.Google Scholar
Hangarter, W.: Das Erbbild der rheumatischen und chronischen Gelenkerkrankungen. Der Rheumatismus. Vol. 13. Th. Steinkopff ed. Dresda 1939.Google Scholar
Harris, T., Harris, S.: Studies in the relation of the hemolytic streptococcus to rheumatic fever etc. Am. J. Med. Sci. 211, 174, 1949.Google Scholar
Hogben, L.: Introduction to mathematical genetics. Norton ed. N. York, 1946.Google Scholar
Kaufmann, O., Scheerer, E.: Ueber die Erblichkeit des akuten Gelenkrheumatismus. Z. menschl. Vererb. u. Konstit. lehre. 21, 687, 1938.Google Scholar
Koster, : citato da Lucherini.Google Scholar
Irvine-Jones, E.: Acute rheumatism as a familial disease. Am. J. Dis. Child. 45, 1184, 1933.Google Scholar
Levine, S.: Thyronine and phenylalanine metabolism in infants and the role of vitamin C. Harvey Lect 42, 303, 1937.Google Scholar
Long, D. A.: The pathogenesis of rheumatic fever. Lancet I, 529, 1954.Google Scholar
Lucherini, T. Cecchi, E. Trattato di reumatologia Ed. Vallardi 1955.Google Scholar
Lunedei, A.: Concetti e limiti del reumatismo. Reumatismo 3, 65, 1951.Google Scholar
Lunedei, A., e Coll, .: Aspetti del problema della localizzazione dei morbi. Rel. 55° Congr. Soc. It. Med. Int. Roma, 1954.Google Scholar
Lunedei, A. Morandi, G. A.: I reumatismi distrofici. Rel. VIII Congr. Soc. It. Reumat. 1954. Reumatismo Suppl. 3, 1955.Google Scholar
Lurie, : citato da Lunedei e coll.Google Scholar
Mc Carty, M.: The immune response in rheumatic fever. Symposium on Rheumatic Fever pg. 136, Thomas ed. Minneapolis, 1952.Google Scholar
Madden, T., Kallak, K.: Investigation on rheumatic fever subsequent to some epidemics of septic sore throat (especially milk epidemics). Acta path. microbiol. scand. 17, 305, 1940.Google Scholar
Marini, C., Soragni, E.: La malattia reumatica nella provincia di Modena. Atti XX Congr. It. Ped. 1949, vol. II pg. 418.Google Scholar
Mason, H. H., Turner, M. E.: Chronic galactemie. Report of case with studies of carbohydrates. Am. J. dis. Child. 50, 359, 1935.CrossRefGoogle Scholar
Murphy, G., Swift, H. F.: J. Exp. Med. 89, 687, 1949.CrossRefGoogle Scholar
Murphy, G.: Attempts to induce rheumatic fever in experimental animals. Symposium on rheumatic fever. Ed. Minn, Thomas. 1952.Google Scholar
Neuberger, A., Rimington, C., Wilson, J. M. G.: citati da Bonner.Google Scholar
Osborn, D.: Inheritance of baldness. J. Herd. 7, 347, 1916.CrossRefGoogle Scholar
Penrose, L. S.: On the interaction of heredity and environment in the study of human genetics. J. Genet. 25, 407, 1932.Google Scholar
Perry, C. B., Roberts, J. A. F.: Study on the variability in the incidence of rheumatic heart disease within the city of Bristol. Brith. Med. J. suppl. 2, 154, 1940.Google Scholar
Pickles, W. N.: A rheumatic family. Lancet 245, 241, 1943.Google Scholar
Poppi, A., Labò, G., Lenzi, G. e Rosa, L.: Epidemiology of rheumatic fever in a rural district in Italy with particular reference to some environmental factors. Ann. Rheum. Dis. 12, 310, 1953.CrossRefGoogle Scholar
Quinn, R. W.: Antihyaluronidase studies of sera from patients with rheumatic fever, streptococcal infections and miscellaneous non streptococcal disease. J. clin. Invest. 27, 471, 1948.CrossRefGoogle Scholar
Quinn, R. W.: The incidence of rheumatic fever and heart disease in school children in Dublin, Georgia, with some epidemiological and sociological observations. Am. Heart J. 32, 234, 1946.Google Scholar
Quinn, R. W., Liao, S. J.: A comparative study of anthyaluronidase, antistreptolysin «O», antistreptokinase and streptococcal agglutination titers in patients with rheumatic fever etc. etc. J. Clin. Invest. 29, 1156, 1950.Google Scholar
Rantz, L. A., Randall, E., Rantz, H. H.: Antistreptolysin O.A study of this antibody in healt and hemolytic streptococcus respiratory disease in men. Am. J. Med. 5, 3, 1948.Google Scholar
Read, F. E. M., Ciocco, A., Taussig, H.: The frequency of rheumatic manifestations among siblings, parents, uncles, aunts and grandparents of rheumatic and control patiens. Am. J. Hyg. 27, 719, 1938.Google Scholar
Reid, : citato da Uchida I.Google Scholar
Roberts, J. A. F., Thomson, W. A. R.: An enquiry into the familial incidence of acute rheumatism. Ann. Eugen. 6, 3, 1934.CrossRefGoogle Scholar
Roberts, L.: Notification of rheumatism in Sheffield. Med. Offr. 86, 159, 1951.Google Scholar
Salazar Mallen, M., Castillo, F.: Estudios sobre la genetica del reumatismo cardioarticular. Arch. inst. Cardiol. Mexico. 22, 136, 1952.Google Scholar
Schwartz, M.: Heredity in bronchial asthma Munksgaard. 1952 Copenhagen.Google Scholar
Schwentker, F. F.: The epidemiology of rheumatic fever. Symposium on rheumatic fever. Ed. Minn, Thomas. 1952.Google Scholar
Short, C. L., Abrams, N. R., Sartwell, P. E.: Factors associated with the onset of rheumatoid arthritis. A statistical study of 293 patients and controls. Rheumatic disease Phyladelphya, 1952 Saunders, W. B. ed.Google Scholar
Snyder, L. H.: The principles of heredity. Heat, D. C.. ed. N. York, 1946.Google Scholar
Spolverini, L.: Rass. din. scient. IBI 17, 1939.Google Scholar
Stecher, R. M., Hersh, A. H.: Heberseh's nodes: the mechanism of inheritance in hyperthrophyc arthritis of the fingers. J. Ciin. Invest. 23, 699, 1944.Google Scholar
Stevenson, A. C., Cheeseman, E. A.: Heredity and rheumatic fever. A study of 642 families ascertained by an affected child and 51 familias ascertained by an affected mother. Ann. Eugenics 17, 177, 1953.Google Scholar
Teodori, U.: Significato e limiti del concetto di «malattia del collageno». Recenti progr. Med. 13, 495, 1952.Google Scholar
Teodori, U., Borghi, A., Neri Serneri, G. G.: Eredità e localizzazioni morbose. Ed. Medica, Omnia 1955, Pisa.Google Scholar
Uchida, I. A.: Possible genetic factors in the etiology of rheumatic fever. Am. J. Human Genetics 5, 61, 1953.Google ScholarPubMed
Vezzoso, B., Puddu, V.: Not. ann. san. 8, 525, 1947.Google Scholar
Weinstein, L. Potsubay: A comparison of «sintomatic treatment» gamma globulin and penicillin in the treatment of scarlet fever. . Pediatr. 37, 291, 1950.Google Scholar
Weitz, W.: Die Vererbung innerer Krankheiten. F. Enke ed. Stoccarda, 1936.Google Scholar
Wilson, M. G., Schweitzer, M. D.: Rheumatic fever as a familial disease. Environment, communicability and heredity in their relation to the observed familial incidence of the disease. J. Clin. Invest. 16, 555, 1937.CrossRefGoogle Scholar
Wilson, M. G., Schweitzer, M. D., Lubschez, R.: The familial epidemiology of rheumatic fever: genetic and epidemiologic studies. J. Pediat. 22, 468 e 581, 1943.CrossRefGoogle Scholar
Wilson, M. G., Schweitzer, M.: Pattern of hereditary susceptibility in rheumatic fever. Circulation 10, 699, 1954.Google Scholar