Familial hyperparathyroidism

Hiroshi Takami, S. Shirahama, Y. Ikeda, Y. Sasaki, Norihito Wada, M. Niimi, Kaori Kameyama

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Familial hyperparathyroidism (HPT) is a hereditary disease in which HPT is transmitted in an autosomal dominant fashion. It includes a variety of diseases: multiple endocrine neoplasia (MEN) type 1 and type 2, and familial isolated hyperparathyroidism (FIHPT). We screened for MEN 1 mutations by direct nucleotide sequencing of all protein-coding regions and identified the germline mutations of the MEN 1 gene in two families with familial HPT. Patients with FIHPT have multiple abnormal parathyroid glands and are prone to both recurrent and persistent HPT. They frequently present with profound hypercalcemia, in contrast to patients with MEN-associated HPT or sporadic HPT. We recommend subtotal or total parathyroidectomy plus autotransplantation in patients with MEN-associated HPT and patients with FIHPT. Because parathyroid remains or supernumerary glands are often present in the thymus or perithymic tissue, we advocate routine bilateral dissection of the central zone with bilateral cervical thymectomy. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

Original languageEnglish
JournalBiomedicine and Pharmacotherapy
Volume54
Issue numberSUPPL. 1
DOIs
Publication statusPublished - 2000 Jun

Fingerprint

Hyperparathyroidism
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 1
Thymectomy
Parathyroidectomy
Inborn Genetic Diseases
Parathyroid Glands
Germ-Line Mutation
Autologous Transplantation
Hypercalcemia
Thymus Gland
Open Reading Frames
Dissection
Nucleotides
Mutation
Genes
Hyperparathyroidism 1
Hyperparathyroidism 3

Keywords

  • Familial hyperparathyroidism
  • Familial isolated hyperparathyroidism
  • Multiple endocrine neoplasia

ASJC Scopus subject areas

  • Pharmacology

Cite this

Familial hyperparathyroidism. / Takami, Hiroshi; Shirahama, S.; Ikeda, Y.; Sasaki, Y.; Wada, Norihito; Niimi, M.; Kameyama, Kaori.

In: Biomedicine and Pharmacotherapy, Vol. 54, No. SUPPL. 1, 06.2000.

Research output: Contribution to journalArticle

Takami, H, Shirahama, S, Ikeda, Y, Sasaki, Y, Wada, N, Niimi, M & Kameyama, K 2000, 'Familial hyperparathyroidism', Biomedicine and Pharmacotherapy, vol. 54, no. SUPPL. 1. https://doi.org/10.1016/S0753-3322(00)80006-2
Takami H, Shirahama S, Ikeda Y, Sasaki Y, Wada N, Niimi M et al. Familial hyperparathyroidism. Biomedicine and Pharmacotherapy. 2000 Jun;54(SUPPL. 1). https://doi.org/10.1016/S0753-3322(00)80006-2
Takami, Hiroshi ; Shirahama, S. ; Ikeda, Y. ; Sasaki, Y. ; Wada, Norihito ; Niimi, M. ; Kameyama, Kaori. / Familial hyperparathyroidism. In: Biomedicine and Pharmacotherapy. 2000 ; Vol. 54, No. SUPPL. 1.
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