title: [Familial isolated primary hyperparathyroidism--description and analyses of six cases].
abstract: Our objective is to evaluate and describe one family with six cases of familial isolated primary hyperparathyroidism (HFI), a rare hereditable disorder with an autossomal dominant mode of inheritance. It is characterized by a primary hyperparathyroidism without association with other endocrine tumors or diseases. The HFI diagnosis relied on the demonstration of hypercalcemia, inappropriately high levels of parathyroid hormone, and parathyroid adenomas, plus exclusion of NEM 1/2a and HPT/TM syndrome in this family. We analyzed the description of the first diagnosis, surgical approach, postoperative histopathological results and their development process. The first patient, treated in our institute twenty years ago, has recidivated eleven years after the treatment. Her sister had had the same diagnosis, which motivated us to investigate theirs relatives. The analysis of the characteristics that run in these patients' family has contributed to facilitate their diagnosis and therapeutic treatment, including clinical and genetic orientation of this family.
authors.affiliation: Serviço de Doenças Osteometabólicas, Instituto Estadual de Diabetes e Endocrinologia, Rio de Janeiro, RJ. liviamoulin@yahoo.com.br
authors.forename: Lívia Xavier
authors.initials: LX
authors.lastname: Moulin
authors.forename: Joyce
authors.initials: J
authors.lastname: Cantoni
authors.forename: Rosino
authors.initials: R
authors.lastname: Baccarini Neto
authors.forename: Patrícia Lavatori
authors.initials: PL
authors.lastname: Corrêa
authors.forename: Cláudio Tinoco
authors.initials: CT
authors.lastname: Mesquita
authors.forename: João Guilherme de
authors.initials: JG
authors.lastname: Figueiredo
authors.forename: Maurício Barbosa
authors.initials: MB
authors.lastname: Lima
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis* / Q000235:genetics; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis*; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis*; D010281:Parathyroid Hormone / Q000097:blood; D010282:Parathyroid Neoplasms / Q000175:diagnosis*; D010375:Pedigree; D013577:Syndrome
chemical_list: D010281:Parathyroid Hormone