Role of KCNJ5 in familial and sporadic primary aldosteronism

2012 ◽  
Vol 9 (2) ◽  
pp. 104-112 ◽  
Author(s):  
Paolo Mulatero ◽  
Silvia Monticone ◽  
William E. Rainey ◽  
Franco Veglio ◽  
Tracy Ann Williams
Keyword(s):  
Primary Aldosteronism

Expression and functional role of the prorenin receptor in the human adrenocortical zona glomerulosa and in primary aldosteronism

2015 ◽  
Vol 33 (5) ◽  
pp. 1014-1022 ◽  
Author(s):  
Chiara Recarti ◽  
Teresa Maria Seccia ◽  
Brasilina Caroccia ◽  
Abril Gonzales-Campos ◽  
Giulio Ceolotto ◽  
...  
Keyword(s):  
Primary Aldosteronism ◽  
Functional Role ◽  
Zona Glomerulosa ◽  
Prorenin Receptor

scholarly journals Unanswered Questions in the Genetic Basis of Primary Aldosteronism

2017 ◽  
Vol 49 (12) ◽  
pp. 963-968 ◽  
Author(s):  
Ute Scholl
Keyword(s):  
Primary Aldosteronism ◽  
Genetic Basis ◽  
Rare Variants ◽  
Beta Catenin ◽  
Major Question ◽  
Serum Factors ◽  
Germline Variants ◽  
Number Variation ◽  
Bilateral Adrenal Hyperplasia

AbstractOver the past six years, the genetic basis of a significant fraction of primary aldosteronism (PA) cases has been solved. Breakthrough discoveries include the role of somatic variants in the KCNJ5, CACNA1D, ATP1A1, and ATP2B3 genes as causes of aldosterone-producing adenomas (APAs), and the recognition of three novel hyperaldosteronism syndromes with germline variants in the KCNJ5, CACNA1D, and CACNA1H genes. The description of somatic variants in CACNA1D and ATP1A1 in aldosterone-producing cell clusters (APCCs) suggests that these clusters are precursors of some aldosterone-producing adenomas. Yet, a number of questions remain unanswered. These include the genetic basis of about 40% of APAs without somatic variants in known genes. Do technical issues explain this finding, or are the unexplained APAs due to somatic copy number variation or rare variants in thus-far undiscovered genes? Similarly, the role of CTNNB1 (beta catenin) variants in APA pathogenesis is still unclear. The major question to be solved is the genetic basis of bilateral adrenal hyperplasia (BAH). Is BAH due to the bilateral occurrence of APCCs, to germline variants, or perhaps due to unknown serum factors? Lastly, the etiology of unsolved cases of apparently familial hyperaldosteronism remains to be discovered. It is expected that genetic studies over the next few years will lead to answers to at least some of the questions raised.

Study on clinical and endocrine characteristics of dexamethasone-suppressible hyperaldosteronism compared with those in primary aldosteronism owing to aldosterone-producing adenoma

1989 ◽  
Vol 121 (3) ◽  
pp. 334-344 ◽  
Author(s):  
Noriyoshi Yamakita ◽  
Keigo Yasuda ◽  
Nobuyasu Noritake ◽  
Leilani B. Mercado-Asis ◽  
Hiroshi Murase ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Primary Aldosteronism ◽  
Blood Pressure Response ◽  
Laboratory Data ◽  
Japanese Patients ◽  
Pressure Response ◽  
Plasma Aldosterone ◽  
Vascular Damage ◽  
Aldosterone Producing Adenoma

Abstract. The clinical and endocrine characteristics of 12 Japanese patients with dexamethasone-suppressible hyperaldosteronism were compared with those in 49 Japanese patients with primary aldosteronism due to aldosteronoma. The results were as follows: 1. Most of the laboratory data in the two groups were almost the same. 2. The grade of vascular damage in both uncontrolled (3) and well-controlled (9) patients with dexamethasonesuppressible hyperaldosteronism did not correlate with blood pressure response. 3. The responsiveness of plasma aldosterone to exogenous ACTH in 6 patients with dexamethasone-suppressible hyperaldosteronism was not different from that in 9 patients with aldosteronoma. Even in 3 well-controlled patients in the former group, the plasma aldosterone response was as low as in all the 3 patients with small aldosteronomas. 4. In 4 patients with small aldosteronomas, plasma aldosterone was continuously suppressed with daily dexamethasone to the same degree as in dexamethasone-suppressible hyperaldosteronism. 5. The blood pressure, however, did not improve even in the patients with small aldosteronomas. The possible indistinguishable mechanism in dexamethasone-suppressible hyperaldosteronism and primary aldosteronism with small adenomas and the role of unknown hypertensinogenic steroid(s) other than aldosterone in inducing hypertension in dexamethasone-suppressible hyperaldosteronism are discussed.

Primary Aldosteronism: The Role of Confirmatory Tests

2012 ◽  
Vol 44 (03) ◽  
pp. 177-180 ◽  
Author(s):  
M. Salvà ◽  
M. Cicala ◽  
F. Mantero
Keyword(s):  
Primary Aldosteronism ◽  
Confirmatory Tests

scholarly journals Deciphering the Role of Vasopressin in Primary Aldosteronism

2015 ◽  
Vol 100 (9) ◽  
pp. 3297-3303 ◽  
Author(s):  
Luis Nogueira-Silva ◽  
Anne Blanchard ◽  
Emmanuel Curis ◽  
Aurélien Lorthioir ◽  
Valentina Zhygalina ◽  
...  
Keyword(s):  
Primary Aldosteronism

scholarly journals Significance of Discordant Results: between Confirmatory Tests in Diagnosis of Primary Aldosteronism

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A95-A96
Author(s):  
Tazuru Fukumoto ◽  
Hironobu Umakoshi ◽  
Masatoshi Ogata ◽  
Maki Yokomoto-Umakoshi ◽  
Yayoi Matsuda ◽  
...  
Keyword(s):  
Positive Result ◽  
Primary Aldosteronism ◽  
Challenge Test ◽  
Cross Sectional Study ◽  
Confirmatory Test ◽  
Double Positive ◽  
Cross Sectional ◽  
Confirmatory Tests ◽  
Single Positive

Abstract Context: Current clinical guidelines recommend confirmation of positive result in at least one confirmatory test in the diagnosis of primary aldosteronism (PA). Clinical implication of multiple confirmatory tests has not been established, especially when patients show discordant results. Objective: The aim of the present study was to explore the role of two confirmatory tests in subtype diagnosis of PA. Design: Retrospective cross-sectional study. Setting: The study was conducted at two referral centers. Participants and Method: We identified 360 hypertensive patients who underwent both captopril challenge test (CCT) and saline infusion test (SIT) and exhibited at least one positive result. Among them, we studied 193 patients with PA whose data were available for subtype diagnosis based on adrenal vein sampling (AVS). Main Outcome Measure: The prevalence of bilateral subtype on AVS according to the results of the confirmatory tests. Results: Of patients studied, 127 were positive for both CCT and SIT (double-positive), while 66 were positive for either CCT or SIT (single-positive) (n = 34 and n = 32, respectively). Altogether, 135 were diagnosed with bilateral subtype on AVS. The single-positive patients had milder clinical features of PA than the double-positive patients. The prevalence of bilateral subtype on AVS was significantly higher in the single-positive patients than in the double-positive patients. (63/66 [95.5%] vs. 72/127 [56.7%], P < 0.01). Several clinical parameters were different between CCT single-positive and SIT single-positive patients. Conclusion: Patients with discordant results between CCT and SIT have a high probability of bilateral subtype of PA on AVS.

Abstract 53: Measurement of Peripheral Blood 18-Oxocortisol as the Diagnostic Method of Primary Aldosteronism and Its Subtypes

Hypertension ◽  
2013 ◽  
Vol 62 (suppl_1) ◽  
Author(s):  
Fumitoshi Satoh ◽  
Ryo Morimoto ◽  
Masataka Kudo ◽  
Yoshitsugu Iwakura ◽  
Yoshikiyo Ono ◽  
...  
Keyword(s):  
Primary Aldosteronism ◽  
Peripheral Blood ◽  
Roc Analysis ◽  
Maximum Level ◽  
Immunohistochemical Analysis ◽  
Diagnostic Tools ◽  
Expert Radiologist ◽  
Aldosterone Producing Adenoma ◽  
Higher Sensitivity

Backgrounds: Primary aldosteronism (PA) is diagnosed and treated by the long steps, such as screening, confirmation testing and subtype diagnosis (computed tomography (CT) scan and adrenal venous sampling (AVS)). AVS has been the only reliable subtype classification method between surgically curable unilateral aldosterone producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (BHA). In spite of increased numbers of specialized centers with superior ability of AVS in the world, unfortunately, this test is costly and requires a dedicated and expert radiologist; therefore it is not generally utilizable in most hospitals. It is understandable that easier diagnostic tools to be substitutes for AVS might be hoped by clinicians. Objective: The aim of the study was to determine the role of peripheral plasma levels of 18-oxo-cortisol (p18oxoF) and 18-hydroxycortisol (p18OHF) in differentiate APA from BHA. Patients: The study included 265 PA patients (113 patients with CT-positive macro APA, 31 patients with CT-negative micro APA and 121 patients with BHA) and 79 patients with essential hypertension (EH). Methods: All of 265 PA patients underwent AVS successfully, and any case with APA was surgically proven and pathologically confirmed including immunohistochemical analysis of steroidogenic enzymes. We measured p18oxoF and p18OHF of all PA patients by high sensitive LC ms/ms. Results: APA patients showed significantly higher p18oxoF and p18OHF than those of BHA patients and EH patients. The ROC analysis of p18oxoF in macro APA versus BHA demonstrated clinically useful discrimination with higher sensitivity of 0.83 and higher specificity of 0.99 by cutoff value of 4.7 (ng/dl), compared to the classification by p18OHF. Practically, 86 (76%) of macro APA patients with p18oxoF above 6.1 (ng/dl), which was the maximum level in BHA patients, might have been able to undergo surgery without AVS. Because the maximum p18oxoF in EH patients was 5.6 (ng/dl), the patients with p18oxoF above 6.1 (ng/dl) after screening of PA could also undergo surgery if unilateral adenoma(s) can be found on CT; thus it means omitting confirmation tests. Conclusions: Peripheral blood 18oxoF measurement can be a clinically useful method for the diagnosis of PA and its subtypes.

scholarly journals Psychological Assessment of Primary Aldosteronism: A Controlled Study

2011 ◽  
Vol 96 (6) ◽  
pp. E878-E883 ◽  
Author(s):  
Nicoletta Sonino ◽  
Elena Tomba ◽  
Maria Luisa Genesia ◽  
Chiara Bertello ◽  
Paolo Mulatero ◽  
...  
Keyword(s):  
Anxiety Disorder ◽  
Diagnostic Criteria ◽  
Primary Aldosteronism ◽  
Well Being ◽  
Structured Interview ◽  
Controlled Study ◽  
Psychosomatic Research ◽  
Symptom Questionnaire ◽  
Normotensive Subjects

Objective: Our objective was to investigate psychological correlates in a population with primary aldosteronism (PA) using methods found to be sensitive and reliable in psychosomatic research. Methods: Twenty-three PA patients (12 male, 11 female; mean age 50 ± 9 yr) were compared with 23 patients with essential hypertension (EH) (15 male, eight female; mean age 47 ± 8 yr) and 23 matched normotensive subjects. A modified version of the Structural Clinical Interview for DSM-IV, a shortened version of the structured interview for the Diagnostic Criteria for Psychosomatic Research, and two self-rating questionnaires, the Psychosocial Index and the Symptom Questionnaire, were administered. Results: Twelve of 23 patients with PA (52.2%) suffered from an anxiety disorder compared with four of 23 with EH (17.4%) and one control (4.3%) (P < 0.001). Generalized anxiety disorder was more frequent in PA than in EH patients and controls (P < 0.05). As assessed by Diagnostic Criteria for Psychosomatic Research, irritable mood was more frequent in PA and EH compared with controls (P < 0.05) but did not differentiate PA from EH. According to Psychosocial Index results, patients with PA had higher levels of stress (P < 0.01) and psychological distress (P < 0.01) and lower level of well-being (P < 0.05) than controls. Compared with EH patients, PA patients had higher scores in stress subscale (P < 0.05). The Symptom Questionnaire showed higher levels of anxiety (P < 0.01), depression (P < 0.01) and somatization (P < 0.01) and lower physical well-being (P < 0.05) in PA than controls. Conclusion: A role of mineralocorticoid regulatory mechanisms in clinical situations concerned with anxiety and stress is suggested.

Role of adrenal vein sampling in primary aldosteronism: the Monash Health experience

2015 ◽  
Vol 45 (11) ◽  
pp. 1141-1146 ◽  
Author(s):  
J. Teng ◽  
M. E. Hutchinson ◽  
J. C. G. Doery ◽  
K. W. Choy ◽  
W. Chong ◽  
...  
Keyword(s):  
Primary Aldosteronism ◽  
Adrenal Vein ◽  
Adrenal Vein Sampling
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