Literature DB >> 24442824

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

Nikolaos Pontikides1, Spyridon Karras, Athina Kaprara, Panagiotis Anagnostis, Gesthimani Mintziori, Dimitrios G Goulis, Eleni Memi, Gerasimos Krassas.   

Abstract

Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of FIHP in a four-generation Greek family, with no identifiable gene mutations. Clinical approach and long-term follow-up are discussed and a narrative review of the genetic basis of this entity has been performed.

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Year:  2014        PMID: 24442824     DOI: 10.1007/s00774-013-0551-9

Source DB:  PubMed          Journal:  J Bone Miner Metab        ISSN: 0914-8779            Impact factor:   2.626


  96 in total

1.  Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo.

Authors:  Christian Mosimann; George Hausmann; Konrad Basler
Journal:  Cell       Date:  2006-04-21       Impact factor: 41.582

2.  Familial hyperparathyroidism: report of a case.

Authors:  H Abe; T Tani; H Naito; E Mekata; H Sako; J Ioka; M Kodama
Journal:  Surg Today       Date:  1999       Impact factor: 2.549

Review 3.  Molecular genetics of multiple endocrine neoplasia types 1 and 2.

Authors:  Stephen J Marx
Journal:  Nat Rev Cancer       Date:  2005-05       Impact factor: 60.716

4.  A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.

Authors:  M Honda; T Tsukada; H Tanaka; K Maruyama; K Yamaguchi; T Obara; T Yamaji; M Ishibashi
Journal:  Eur J Endocrinol       Date:  2000-02       Impact factor: 6.664

5.  Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

Authors:  C Tanaka; K Yoshimoto; S Yamada; H Nishioka; S Ii; M Moritani; T Yamaoka; M Itakura
Journal:  J Clin Endocrinol Metab       Date:  1998-03       Impact factor: 5.958

6.  Familial isolated primary hyperparathyroidism with double adenoma.

Authors:  Emad Kandil; Haytham H Alabbas; Ying W Lum; Anthony P Tufaro
Journal:  South Med J       Date:  2010-03       Impact factor: 0.954

7.  A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer.

Authors:  K Yamashita; S Suzuki; W Yumita; Y Ikeo; Y Uehara; K Minemura; A Sakurai; K Hashizume
Journal:  Endocr J       Date:  2001-08       Impact factor: 2.349

8.  Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.

Authors:  K J Bradley; B M Cavaco; M R Bowl; B Harding; A Young; R V Thakker
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

9.  Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families.

Authors:  B T Teh; F Farnebo; S Twigg; A Höög; S Kytölä; E Korpi-Hyövälti; F K Wong; J Nordenström; L Grimelius; K Sandelin; B Robinson; L O Farnebo; C Larsson
Journal:  J Clin Endocrinol Metab       Date:  1998-06       Impact factor: 5.958

10.  Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Authors:  M R Pollak; E M Brown; Y H Chou; S C Hebert; S J Marx; B Steinmann; T Levi; C E Seidman; J G Seidman
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

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  12 in total

Review 1.  Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

Authors:  Stephen J Marx; David Goltzman
Journal:  J Bone Miner Res       Date:  2018-12-10       Impact factor: 6.741

Review 2.  Clinical aspects of multiple endocrine neoplasia type 1.

Authors:  Abdallah Al-Salameh; Guillaume Cadiot; Alain Calender; Pierre Goudet; Philippe Chanson
Journal:  Nat Rev Endocrinol       Date:  2021-02-09       Impact factor: 43.330

3.  The natural history and hip geometric changes of primary hyperparathyroidism without parathyroid surgery.

Authors:  Kyong Yeun Jung; A Ram Hong; Dong Hwa Lee; Jung Hee Kim; Kyoung Min Kim; Chan Soo Shin; Seong Yeon Kim; Sang Wan Kim
Journal:  J Bone Miner Metab       Date:  2016-04-02       Impact factor: 2.626

4.  Whole exome sequencing in familial isolated primary hyperparathyroidism.

Authors:  F Cetani; E Pardi; P Aretini; F Saponaro; S Borsari; L Mazoni; M Apicella; P Civita; M La Ferla; M A Caligo; F Lessi; C M Mazzanti; L Torregossa; A Oppo; C Marcocci
Journal:  J Endocrinol Invest       Date:  2019-09-05       Impact factor: 4.256

5.  New Concepts About Familial Isolated Hyperparathyroidism.

Authors:  Stephen J Marx
Journal:  J Clin Endocrinol Metab       Date:  2019-03-08       Impact factor: 5.958

6.  Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.

Authors:  Jing Kong; Ou Wang; Min Nie; Jie Shi; Yingying Hu; Yan Jiang; Mei Li; Weibo Xia; Xunwu Meng; Xiaoping Xing
Journal:  PLoS One       Date:  2016-11-15       Impact factor: 3.240

7.  Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Authors:  Elena Pardi; Simona Borsari; Federica Saponaro; Fausto Bogazzi; Claudio Urbani; Stefano Mariotti; Francesca Pigliaru; Chiara Satta; Fabiana Pani; Gabriele Materazzi; Paolo Miccoli; Lorena Grantaliano; Claudio Marcocci; Filomena Cetani
Journal:  PLoS One       Date:  2017-10-16       Impact factor: 3.240

Review 8.  Familial Hyperparathyroidism.

Authors:  Jenny E Blau; William F Simonds
Journal:  Front Endocrinol (Lausanne)       Date:  2021-02-25       Impact factor: 5.555

Review 9.  Clinical and Molecular Genetics of Primary Hyperparathyroidism.

Authors:  William F Simonds
Journal:  Horm Metab Res       Date:  2020-03-30       Impact factor: 2.788

Review 10.  Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Authors:  Luís Cardoso; Mark Stevenson; Rajesh V Thakker
Journal:  Hum Mutat       Date:  2017-09-25       Impact factor: 4.878

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