Literature DB >> 27485459

Genetics of primary hyperaldosteronism.

Ravi Kumar Dutta1, Peter Söderkvist1, Oliver Gimm2.   

Abstract

Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8-13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes. Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas: KCNJ5, ATP1A1, ATP2B3, CTNNB1, CACNA1D, CACNA1H and ARMC5 This review describes the genes currently known to be responsible for primary aldosteronism, discusses the origin of aldosterone-producing adenomas and considers the future clinical implications based on these novel insights.
© 2016 Society for Endocrinology.

Entities:  

Keywords:  calcium channel; familial; genetics; primary aldosteronism; sporadic

Mesh:

Substances:

Year:  2016        PMID: 27485459     DOI: 10.1530/ERC-16-0055

Source DB:  PubMed          Journal:  Endocr Relat Cancer        ISSN: 1351-0088            Impact factor:   5.678


  8 in total

1.  A novel somatic mutation 145-147delETEinsK in KCNJ5 increases aldosterone production.

Authors:  F-F Zheng; L-M Zhu; W-L Zhou; Y Zhang; M-Y Li; Y-C Zhu; J-G Wang; D-L Zhu; P-J Gao
Journal:  J Hum Hypertens       Date:  2017-08-24       Impact factor: 3.012

2.  Biochemical, Histopathological, and Genetic Characterization of Posture-Responsive and Unresponsive APAs.

Authors:  Zeng Guo; Kazutaka Nanba; Aaron Udager; Brett C McWhinney; Jacobus P J Ungerer; Martin Wolley; Moe Thuzar; Richard D Gordon; William E Rainey; Michael Stowasser
Journal:  J Clin Endocrinol Metab       Date:  2020-09-01       Impact factor: 5.958

3.  X-chromosome variants are associated with aldosterone producing adenomas.

Authors:  Oliver Gimm; Peter Söderkvist; Ravi Kumar Dutta; Malin Larsson; Thomas Arnesen; Anette Heie; Martin Walz; Piero Alesina
Journal:  Sci Rep       Date:  2021-05-18       Impact factor: 4.379

4.  Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.

Authors:  Andrea G Maria; Mari Suzuki; Annabel Berthon; Crystal Kamilaris; Andrew Demidowich; Justin Lack; Mihail Zilbermint; Fady Hannah-Shmouni; Fabio R Faucz; Constantine A Stratakis
Journal:  Am J Hypertens       Date:  2020-02-22       Impact factor: 3.080

5.  Clinical characteristics of snoring patients with primary aldosteronism and obstructive sleep apnea-hypopnea syndrome.

Authors:  Mingyan Li; Qian Ge; Chang-Sheng Sheng; Jin Zhang; Hua Li; Wenquan Niu; Xiaofeng Tang; Jianzhong Xu; Ping-Jin Gao; Ji-Guang Wang; Limin Zhu
Journal:  J Hum Hypertens       Date:  2019-05-14       Impact factor: 3.012

6.  Should Adrenal Venous Sampling Be Performed in PA Patients Without Apparent Adrenal Tumors?

Authors:  Kentaro Okamoto; Youichi Ohno; Masakatsu Sone; Nobuya Inagaki; Takamasa Ichijo; Takashi Yoneda; Mika Tsuiki; Norio Wada; Kenji Oki; Kouichi Tamura; Hiroki Kobayashi; Shoichiro Izawa; Akiyo Tanabe; Mitsuhide Naruse
Journal:  Front Endocrinol (Lausanne)       Date:  2021-04-12       Impact factor: 5.555

7.  Is hypertension in African-descent populations contributed to by an imbalance in the activities of the ACE2/Ang-(1-7)/Mas and the ACE/Ang II/AT1 axes?

Authors:  Damian Cohall; Nkemcho Ojeh; Carlos M Ferrario; O Peter Adams; Marcella Nunez-Smith
Journal:  J Renin Angiotensin Aldosterone Syst       Date:  2020 Jan-Mar       Impact factor: 1.636

8.  Targeted RNAseq of Formalin-Fixed Paraffin-Embedded Tissue to Differentiate Among Benign and Malignant Adrenal Cortical Tumors.

Authors:  Samuel W Plaska; Chia-Jen Liu; Jung Soo Lim; Juilee Rege; Nolan R Bick; Antonio M Lerario; Gary D Hammer; Thomas J Giordano; Tobias Else; Scott A Tomlins; William E Rainey; Aaron M Udager
Journal:  Horm Metab Res       Date:  2020-08-13       Impact factor: 2.936

  8 in total

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