Avaliação epidemiológica, clínica e laboratorial de indivíduos sob-risco de neoplasia endócrina múltipla tipo 1 na microrregião do Baixo Jaguaribe do estado do Ceará

• Ano de defesa: 2015
• Autor(a) principal: Souza, Michele Renata de
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Palavras-chave em Português: Neoplasia Endócrina Múltipla Tipo 1; Hiperparatireoidismo Primário; Doenças da Hipófise; Tumores Neuroendócrinos
• Link de acesso: http://www.repositorio.ufc.br/handle/riufc/14908

The Multiple Endocrine Neoplasia type 1 (MEN1) is a genetic disorder with autosomal dominant inheritance with high penetrance (near 100% at 50 years) caused by a mutation that inactivates the MEN1 gene. It is defined by the combined occurrence of two of the three major endocrine tumors related to MEN1: Primary hyperparathyroidism (HPT), pituitary tumors (PT) and enteropancreatic endocrine tumors (PET). It is classified as familial MEN1 when there is one patient with MEN1 and at least one first degree relative with one of the three classic tumors. Due to this inheritance pattern, the first degree relatives of patients with MEN1 have a theoretical 50% risk of being carriers of the mutation. In a previous study conducted at the University Hospital Walter Cantídio were clinically diagnosed 56 patients with MEN1, divided into 12 families and four sporadic cases. Of the 12 families, six are coming from two cities located in micro-region of Ceará state known as Baixo Jaguaribe. In this work we aimed to perform clinical and laboratory screening and evaluating associations between epidemiological, clinical and laboratory data on the impact on the diagnosis of MEN1 in relatives under-risk MEN1 from that region and measuring the degree of correlation between clinical research by applying the questionnaire and the biochemical diagnosis. Collection of clinical data of first-degree relatives ≥ 20 years-old under-risk through clinical and epidemiological questionnaire and biochemical evaluation were performed for diagnosis of the main tumors-related syndrome (serum glucose, insulin, total calcium, ionized calcium, phosphorus, PTH, 25-hydroxyvitamin D, prolactin, IGF-1 and gastrin). Of the 27 individuals at-risk evaluated the average age was 45,1 ± 13.1 (22-65) years-old, 59% of them performed activities related to network weaving. Of the total sample, 11/27 (40,7%) had at least one clinical complaints possibly related to the presence of HPT, while the biochemical diagnosis of this was done in 13/27 (48,1%). 18/27 (66,6%) of subjects had one or more signs/symptoms that may be associated with PET, while the biochemical diagnosis was made in only 2/27 (7,4%) of the subjects (01 gastrinoma and 01 insulinoma). Suggestive complaint of PT were found in 17/27 (62,9%), while the biochemical confirmation was made in 5/27 (18,5%), all with hyperprolactinemia. We found a correlation between the clinical and biochemical research for HPT in 8/11 (72,7%) of the subjects (kappa = 0,40, p = 0,054), which is considered moderate and on the other hand there were a weak correlation to both PET in 2/ 18 (11,1%; kappa = 0,076 and p = 0.054) and PT in 5/17 (29,4%; kappa = 0,23 and p = 0,124). In conclusion, we found 14/27 (51,8%) new cases diagnosed with MEN1 in a population considered high risk, which is consistent with the pattern of disease transmission. On average the diagnosis was made in the fifth decade of life, showing a delay in diagnosis. The clinical questionnaire had a poor applicability for diagnosis since the relationship between the presence of a sign and/or a symptom and biochemical diagnosis showed low consistency, with only moderate concordance considered for diagnosis of HPT.