title: [Familial and isolated primary hyperparathyroidism. Case report].
abstract: Familial hyperparathyroidism can be a part of a type 1 or 2 multiple endocrine neoplasia syndrome, can be associated to mandibular fibromas or can appear as an isolated disease. We report a family with 11 members affected by a primary hyperparathyroidism, all with a history of kidney stones and without evidences of other endocrine tumors. Not knowing the familial history of the disease, only one adenoma was resected in four cases and in all, the disease recidivated. Two were operated again, performing a total parathyroidectomy and heterologous autotransplantation of parathyroid tissue in the forearm. The presentation form of primary hyperparathyroidism in this family, is similar to other reported cases. It is more aggressive, is diagnosed at a lower age has a higher incidence of recurrence and multiglandular involvement than the sporadic disease.
authors.affiliation: Departamento de Endocrinología y Sección de Oncología de la División de Cirugía, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. ccampusa@med.puc.cl
authors.forename: C
authors.initials: C
authors.lastname: Campusano
authors.forename: E
authors.initials: E
authors.lastname: Oestreicher
authors.forename: E
authors.initials: E
authors.lastname: Arteaga
authors.forename: A
authors.initials: A
authors.lastname: León
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D008297:Male; D010375:Pedigree