RESUMO
The bone mineral density increments in patients with sporadic primary hyperparathyroidism after parathyroidectomy have been studied by several investigators, but few have investigated this topic in primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Further, as far as we know, only two studies have consistently evaluated bone mineral density values after parathyroidectomy in cases of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Here we revised the impact of parathyroidectomy (particularly total parathyroidectomy followed by autologous parathyroid implant into the forearm) on bone mineral density values in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Significant increases in bone mineral density in the lumbar spine and femoral neck values were found, although no short-term (15 months) improvement in bone mineral density at the proximal third of the distal radius was observed. Additionally, short-term and medium-term calcium and parathyroid hormone values after parathyroidectomy in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 are discussed. In most cases, this surgical approach was able to restore normal calcium/parathyroid hormone levels and ultimately lead to discontinuation of calcium and calcitriol supplementation.
Assuntos
Densidade Óssea , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Cálcio/sangue , Seguimentos , Humanos , Hiperparatireoidismo Primário/fisiopatologia , Neoplasia Endócrina Múltipla Tipo 1/fisiopatologia , Hormônio Paratireóideo/sangue , Paratireoidectomia/métodos , Período Pós-OperatórioRESUMO
The bone mineral density increments in patients with sporadic primary hyperparathyroidism after parathyroidectomy have been studied by several investigators, but few have investigated this topic in primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Further, as far as we know, only two studies have consistently evaluated bone mineral density values after parathyroidectomy in cases of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Here we revised the impact of parathyroidectomy (particularly total parathyroidectomy followed by autologous parathyroid implant into the forearm) on bone mineral density values in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Significant increases in bone mineral density in the lumbar spine and femoral neck values were found, although no short-term (15 months) improvement in bone mineral density at the proximal third of the distal radius was observed. Additionally, short-term and medium-term calcium and parathyroid hormone values after parathyroidectomy in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 are discussed. In most cases, this surgical approach was able to restore normal calcium/parathyroid hormone levels and ultimately lead to discontinuation of calcium and calcitriol supplementation.
Assuntos
Humanos , Densidade Óssea , Hiperparatireoidismo Primário/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/cirurgia , Cálcio/sangue , Seguimentos , Hiperparatireoidismo Primário/fisiopatologia , Neoplasia Endócrina Múltipla Tipo 1/fisiopatologia , Período Pós-Operatório , Hormônio Paratireóideo/sangue , Paratireoidectomia/métodosRESUMO
Differences in bone mineral density (BMD) patterns have been recently reported between multiple endocrine neoplasia type 1-related primary hyperparathyroidism (HPT/MEN1) and sporadic primary HPT. However, studies on the early and later outcomes of bone/renal complications in HPT/MEN1 are lacking. In this cross-sectional study, performed in a tertiary academic hospital, 36 patients cases with uncontrolled HPT from 8 unrelated MEN1 families underwent dual-energy X-ray absorptiometry (DXA) scanning of the proximal one-third of the distal radius (1/3DR), femoral neck, total hip, and lumbar spine (LS). The mean age of the patients was 38.9 ± 14.5 years. Parathyroid hormone (PTH)/calcium values were mildly elevated despite an overall high percentage of bone demineralization (77.8%). In the younger group (<50 years of age), demineralization in the 1/3DR was more frequent, more severe, and occurred earlier (40%; Z-score -1.81 ± 0.26). The older group (>50 years of age) had a higher frequency of bone demineralization at all sites (p < .005) and a larger number of affected bone sites (p < .0001), and BMD was more severely compromised in the 1/3DR (p = .007) and LS (p = .002). BMD values were lower in symptomatic (88.9%) than in asymptomatic HPT patients (p < .006). Patients with long-standing HPT (>10 years) and gastrinoma/HPT presented significantly lower 1/3DR BMD values. Urolithiasis occurred earlier (<30 years) and more frequently (75%) and was associated with related renal comorbidities (50%) and renal insufficiency in the older group (33%). Bone mineral- and urolithiasis-related renal complications in HPT/MEN1 are early-onset, frequent, extensive, severe, and progressive. These data should be considered in the individualized clinical/surgical management of patients with MEN1-associated HPT.
Assuntos
Densidade Óssea/fisiologia , Hiperparatireoidismo/complicações , Hiperparatireoidismo/patologia , Nefropatias/complicações , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/patologia , Adulto , Idade de Início , Idoso , Brasil/epidemiologia , Calcificação Fisiológica/fisiologia , Densitometria , Feminino , Fraturas Ósseas/sangue , Fraturas Ósseas/complicações , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/fisiopatologia , Humanos , Hiperparatireoidismo/epidemiologia , Hiperparatireoidismo/fisiopatologia , Nefropatias/sangue , Nefropatias/epidemiologia , Nefropatias/fisiopatologia , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/epidemiologia , Neoplasia Endócrina Múltipla Tipo 1/fisiopatologia , Prevalência , Adulto JovemRESUMO
OBJECTIVE: Only few large families with multiple endocrine neoplasia type 1 (MEN1) have been documented. Here, we aimed to investigate the clinical features of a seven-generation Brazilian pedigree, which included 715 at-risk family members. DESIGN: Genealogical and geographic analysis was used to identify the MEN1 pedigree. Clinical and genetic approach was applied to characterize the phenotypic and genotypic features of the family members. RESULTS: Our genetic data indicated that a founding mutation in the MEN1 gene has occurred in this extended Brazilian family. Fifty family members were diagnosed with MEN1. Very high frequencies of functioning and non-functioning MEN1-related tumors were documented and the prevalence of prolactinoma (29.6%) was similar to that previously described in prolactinoma-variant Burin (32%). In addition, bone mineral density analysis revealed severe osteoporosis (T, -2.87+/-0.32) of compact bone (distal radius) in hyperparathyroidism (HPT)/MEN1 patients, while marked bone mineral loss in the lumbar spine (T, -1.95+/-0.39), with most cancellous bone, and femoral neck (mixed composition; T, -1.48+/-0.27) were also present. CONCLUSIONS: In this study, we described clinically and genetically the fifth largest MEN1 family in the literature. Our data confirm previous findings suggesting that prevalence of MEN1-related tumors in large families may differ from reports combining cumulative data of small families. Furthermore, we were able to evaluate the bone status in HPT/MEN1 cases, a subject that has been incompletely approached in the literature. We discussed the bone loss pattern found in our MEN1 patients comparing with that of patients with sporadic primary HPT.
Assuntos
Densidade Óssea , Efeito Fundador , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/fisiopatologia , Proteínas Proto-Oncogênicas/genética , Adolescente , Adulto , Densidade Óssea/genética , Brasil , Análise Mutacional de DNA , Família , Feminino , Geografia , Mutação em Linhagem Germinativa/fisiologia , Haplótipos , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/genética , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , LinhagemRESUMO
Apesar de sua raridade, a Sindrome de Zollinger-Ellison (SZE) foi alvo de intensos estudos, os quais contribuiram para a construcao da moderna endocrinologia gastrointestinal. Tradicionalmente, as estrategias diagnosticas e terapeuticas voltaram-se apenas ao controle da hipersecrecao gastrica, obtido geralmente atraves da gastrectomia total. Entretanto, com o desenvolvimento de drogas eficazes na inibicao da secrecao gastrica, as atencoes tem se voltado as possibilidades de resseccao cirurgica e cura do processo neoplasico. A localizacao do tumor (atraves de estudos bioquimicos, radiologicos e endoscopicos) e uma etapa essencial para o...