Contribuição ao estudo das doenças hereditárias

Abstract

Em revisão de conhecimentos sobre doenças hereditárias foi verificada em várias dessas heredopatias (anemia de hemátias em alvo, icterícia hemolítica heredo-familiar. anemia ovalocítica, anemia perniciosa de BIERMER, trombopatia constitucional, distrofia miotônica — compreendendo a doença de TNOMSEN e paramiotonia -, doença de FRIEDREICH, doença de CHARCOT-MARIE, epilepsia, keratosis follicularis ou doença de DARIER. braquidactilia, e câncer gástrico) a existência de indivíduos de comportamento semelhante ao siclêmico na anemia drepanocítica. Tais indivíduos são identificáveis por apresentarem precocemente algum dos sinais clínicos da doença. Provas especiais para cada entidade mórbida são necessárias para essa identificação.Essas verificações indicam a possibilidade de se identificarem os portadores de caráter patogênico hereditário na fase de latência (indivíduos “aparentemente sãos" ou "carrier") e que a existência de tais indivíduos é uma das características das doenças hereditárias, talvez excetuadas, as deformidades congênitas. Sugerem também que se deve relacionar o fenômeno de salteamento de gerações (skipping) na incidência das heredopatias com êsses portadores. E' sugerido o recenseamento e exames periódicos dêsses indivíduos no sentido da aquisição de dados sôbre os fatores responsáveis pela passagem da condição de "latente" para a de doente. Possivelmente, êsses conhecimentos forneceriam as bases de eventual profilaxia das doenças acima mencionadas. Na anemia perniciosa a hepatoterapia, como aconselha ASKEY, deve ser aplicada aos acloridricos, como medida preventiva.<br>The author has reviewd papers about heredity diseases and verified that in some of them (target-cell anemia, hereditary hemolytic jaundice, ovalocytic anemia, Biermer's pernicious anemia, constitutional thrombopathia, dystrophia myotcnica (Thomsen's disease and paramyotonia), Friedreich's disease, Charcot-Marie's disease, epilepsy, keratosis follicularis or Darier's disease, brachy-dactyly and gastric cancer) have been described individuals whose behavior with reference to heredity is very similar to the siclemic in sicle cell anemia. These individuals by means of special proofs are identified because they present very early (in some cases congenital) some of the clinical signs of the disease. These observations shows: a) that it is possible to identify the heirs of a pathological condition before the development of the disease and consequently, also the carriers; b) that the presence of identificable carriers is a characteristic of hereditary diseases, perhaps excepting congenital anomalies. They also suggest that the skipping phenomenon should be related with the carriers. It is suggested a census and periodical examinations of these individuals with a view to get some data about the factors responsible for the development of the disease. Perhaps these data might contribute to establish the basis of eventual prophylactic measures against the above mentioned diseases. In Biermer's pernicious anemia the hepathotherapy should be applied...

Entre negros e miscigenados: a anemia e o traço falciforme no Brasil nas décadas de 1930 e 1940

“…Conducted in 1945, Frimm's research on the incidence of drepanocytosis in Rio Grande do Sul was based on 250 blacks and pardos (mixed-race) from Porto Alegre's Castro (1944), Capriglione (1945), Silva (1945a, 1945b), and Frimm (1947.…”

“…Between 1931 and 1932 he took the Institute's Curso de Aplicação. Starting in 1936, he made several trips to Germany and the United States to do internships at hematological research laboratories (Lent, 1967;Silva, 1967). 19 Fritz Ottensooser was born in Nuremberg, Germany, on July 19, 1891.…”

“…Dividing hereditary diseases into five groups (diseases of the hematic system, of the nervous system, skin diseases, abnormal skeletal development, and cancer) and placing special emphasis on blood diseases, he constantly reiterated that although 'sicklemics' might be healthy, they were disease carriers. Referring yet again to the need for 'prevention, ' Ernani Silva (1945b) asserted that his quest to identify carriers in his research was justified by the need to understand the passage from latent to active phase. 24 The idea of pre-nuptial testing and other control measures did not come only from Carlos Estevão Frimm and Ernani Silva.…”