Primary Aldosteronism

Galati, Sandi Jo

doi:10.1016/j.ecl.2015.02.010

Cited by 16 publications

(8 citation statements)

References 93 publications

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“…However, hypokalemia is not a sensitive marker of PA, as only a 9–37% overall incidence of hypokalemia has been reported in PA patients (22, 23). Secondly, many factors may disturb ARR, including volume status, age, potassium, time of day and antihypertensive use (24). Facing these problems, the absolute aldosterone levels are also taken into account when measuring ARR.…”

Section: Discussionmentioning

confidence: 99%

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

Fan

Zhang

et al. 2018

Endocrine Connections

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Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and hypokalemia. Clinically, misdiagnosis or missing diagnosis is common, since clinical phenotypes of LS are variable and nonspecific. We report a family with misdiagnosis of primary aldosteronism (PA), but identify as LS with a pathogenic frameshift mutation of the epithelial sodium channel (ENaC) β subunit. DNA samples were collected from a 32-year-old proband and 31 other relatives in the same family. A designed panel including 41 genes associated with monogenic hypertension was screened using next-generation sequencing. The best candidate disease-causing variants were verified by Sanger sequencing. Genetic analysis of the proband revealed a novel frameshift mutation c.1838delC (p.Pro613Glnfs*675) in exon 13 of SCNN1B. This heterozygous mutation involved the deletion of a cytosine from a string of three consecutive cytosines located at codons 612 to 613 and resulted in deletion of the crucial PY motif and elongation of the β-ENaC protein. The identical mutation was also found in 12 affected family members. Amiloride was effective in alleviating LS for patients. There were no SCNN1A or SCNN1G mutations in this family. Our study emphasizes the importance of considering LS in the differential diagnosis of early-onset hypertension. The identification of a novel frameshift mutation of SCNN1B enriches the genetic spectrum of LS and has allowed treatment of this affected family to prevent severe complications.

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Section: Discussionmentioning

confidence: 99%

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

Fan

Zhang

et al. 2018

Endocrine Connections

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“…However, the differential diagnosis between APA and CPA still remains challenging because many patients are asymptomatic or there were only non-specific symptoms with no clinical evidence of steroid overproduction ( 2 , 3 ). The gold standard for the diagnosis of APA is through a technically difficult and invasive procedure that samples from a vein located near the adrenal glands, called adrenal vein sampling (AVS), to determine aldosterone and cortisol levels ( 4 , 5 ) The success rate of right AVS is as low as 10% because of the particular and complex anatomical structure ( 6 ). Moreover, about 10–20% of ACAs are bilateral or multiple ( 7 , 8 ).…”

Section: Introductionmentioning

confidence: 99%

A Preliminary Study for Distinguish Hormone-Secreting Functional Adrenocortical Adenoma Subtypes Using Multiparametric CT Radiomics-Based Machine Learning Model and Nomogram

et al. 2020

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Purpose: To explore the application value of multiparametric computed tomography (CT) radiomics in non-invasive differentiation between aldosterone-producing and cortisol-producing functional adrenocortical adenomas. Methods: This retrospective review analyzed 83 patients including 41 patients with aldosterone-producing adenoma and 42 patients with cortisol-producing adenoma. The quantitative radiomics features were extracted from the complete unenhanced, arterial, and venous phase CT images. A comparative study of several frequently used machine learning models (linear discriminant analysis, logistic regression, random forest, and support vector machine) combined with different feature selection methods was implemented in order to determine which was most advantageous for differential diagnosis using radiomics features. Then, the integrated model using the combination of radiomic signature and clinic-radiological features was built, and the associated calibration curve was also presented. The diagnostic performance of these models was estimated and compared using the area under the receiver operating characteristic (ROC) curve (AUC). Result: In the radiomics-based machine learning model, logistic regression model with LASSO (least absolute shrinkage and selection operator) outperformed the other models, which yielded a sensitivity of 0.935, a specificity of 0.823, and an accuracy of 0.887 [AUC = 0.882, 95% confidence interval (CI) = 0.819-0.945]. Moreover, the nomogram representing the integrated model achieved good discrimination performances, which yielded a sensitivity of 0.915, a specificity of 0.928, and an accuracy of 0.922 (AUC = 0.902, 95% CI = 0.822-0.982), and it was better than that of the radiomics model alone. Conclusion: This study found that the combination of multiparametric radiomics signature and clinic-radiological features can non-invasively differentiate the subtypes of hormone-secreting functional adrenocortical adenomas, which may have good potential for facilitating the diagnosis and treatment in clinical practice.

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“…Primary aldosteronism (PA) and Cushing’s syndrome (CS) are usually caused by autonomous over-secretion of aldosterone or cortisol, from the corresponding adrenal zones as a result of hyperplasia or tumors. Both overt and subclinical PA and CS have long-term adverse effects on multiple organs [2, 3]. Patients with concurrent hypersecretion of cortisol and aldosterone have been previously reported, and it is difficult to make the correct diagnosis in those patients [4–8], however, most of these patients had adenomas that secreted both cortisol and aldosterone simultaneously, i.e.…”

Section: Introductionmentioning

confidence: 99%

Hypercortisolism and primary aldosteronism caused by bilateral adrenocortical adenomas: a case report

et al. 2019

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Background Co-existing Cushing’s syndrome and primary aldosteronism caused by bilateral adrenocortical adenomas, secreting cortisol and aldosterone, respectively, have rarely been reported. Precise diagnosis and management of this disorder constitute a challenge to clinicians due to its atypical clinical manifestations and laboratory findings. Case presentation We here report a Chinese male patient with co-existing Cushing’s syndrome and primary aldosteronism caused by bilateral adrenocortical adenomas, who complained of intermittent muscle weakness for over 3 years. Computed tomography scans revealed bilateral adrenal masses. Undetectable ACTH and unsuppressed cortisol levels by dexamethasone suggested ACTH-independent Cushing’s syndrome. Elevated aldosterone to renin ratio and unsuppressed plasma aldosterone concentration after saline infusion test suggested primary aldosteronism. Adrenal venous sampling adjusted by plasma epinephrine revealed hypersecretion of cortisol from the left adrenal mass and of aldosterone from the right one. A sequential bilateral laparoscopic adrenalectomy was performed. The cortisol level was normalized after partial left adrenalectomy and the aldosterone level was normalized after subsequent partial right adrenalectomy. Histopathological evaluation of the resected surgical specimens, including immunohistochemical staining for steroidogenic enzymes, revealed a left cortisol-producing adenoma and a right aldosterone-producing adenoma. The patient’s symptoms and laboratory findings resolved after sequential adrenalectomy without any pharmacological treatment. Conclusions Adrenal venous sampling is essential in diagnosing bilateral functional adrenocortical adenomas prior to surgery. Proper interpretation of the laboratory findings is particularly important in these patients. Immunohistochemistry may be a valuable tool to identify aldosterone/cortisol-producing lesions and to validate the clinical diagnosis. Electronic supplementary material The online version of this article (10.1186/s12902-019-0395-y) contains supplementary material, which is available to authorized users.

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Primary Aldosteronism

Cited by 16 publications

References 93 publications

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

A Preliminary Study for Distinguish Hormone-Secreting Functional Adrenocortical Adenoma Subtypes Using Multiparametric CT Radiomics-Based Machine Learning Model and Nomogram

Hypercortisolism and primary aldosteronism caused by bilateral adrenocortical adenomas: a case report

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