A short review of primary aldosteronism in a question and answer fashion

Farrugia, Frederick‐Anthony; Zavras, Nick; Martikos, Georgios; Tzanetis, Panagiotis; Charalampopoulos, Anestis; Misiakos, Evangelos P.; Sotiropoulos, Dimitrios; Koliakos, Nikolaos

doi:10.2478/enr-2018-0005

Cited by 7 publications

(3 citation statements)

References 107 publications

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“…This condition is also called familial hyperaldosteronism type 1. In very young patients with PA, testing for germline mutations in KCNJ5 is recommended to diagnose familial hyperaldosteronism type 3 ( 41 ).…”

Section: Laboratory Investigation Of Hypokalemiamentioning

confidence: 99%

Hypokalemia: a clinical update

Kardalas

Paschou

Anagnostis

et al. 2018

Endocrine Connections

207

174

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Hypokalemia is a common electrolyte disturbance, especially in hospitalized patients. It can have various causes, including endocrine ones. Sometimes, hypokalemia requires urgent medical attention. The aim of this review is to present updated information regarding: (1) the definition and prevalence of hypokalemia, (2) the physiology of potassium homeostasis, (3) the various causes leading to hypokalemia, (4) the diagnostic steps for the assessment of hypokalemia and (5) the appropriate treatment of hypokalemia depending on the cause. Practical algorithms for the optimal diagnostic, treatment and follow-up strategy are presented, while an individualized approach is emphasized.

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Section: Laboratory Investigation Of Hypokalemiamentioning

confidence: 99%

Hypokalemia: a clinical update

Kardalas

Paschou

Anagnostis

et al. 2018

Endocrine Connections

207

174

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show abstract

“…Therefore, serum potassium performed best if the cut-off to detect primary aldosteronism was set at <3.9 mmol/L which is above routine usage and guideline recommendations [ 16 , 17 ]. This may also be the cause to assume that the majority of patients affected by PA are normokalemic [ 18 , 19 , 20 ]. However, we could show that serum potassium along with SUSPPUP and renin normalizes during pharmacologic treatment and—even more and along with the ARR—after surgery, indicating that salt preservation on the expense of potassium is reversed with anti-mineralocorticoid treatment or removal of aldosterone-producing adenomas.…”

Section: Discussionmentioning

confidence: 99%

Aldosterone-Mediated Sodium Retention Is Reflected by the Serum Sodium to Urinary Sodium to (Serum Potassium)2 to Urinary Potassium (SUSPPUP) Index

et al. 2020

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The serum sodium to urinary sodium ratio divided by the (serum potassium)2 to urinary potassium ratio (SUSPPUP formula) reflects aldosterone action. We here prospectively investigated into the usefulness of the SUSPPUP ratio as a diagnostic tool in primary hyperaldosteronism. Parallel measurements of serum and urinary sodium and potassium concentrations (given in mmol/L) in the fasting state were done in 225 patients. Of them, 69 were diagnosed with primary aldosteronism (PA), 102 with essential hypertension (EH), 26 with adrenal insufficiency (AI) and 28 did not suffer from the above-mentioned disorders and were assigned to the reference group (REF). The result of the SUSPPUP formula was highest in the PA group (7.4, 4.2–12.3 L/mmol), followed by EH (3.2, 2.3–4.3 L/mmol), PA after surgery (3.9, 3.0–6.0 L/mmol), REF (3.4 ± 1.4 L/mmol) and AI (2.9 +/− 1.2 L/mmol). The best sensitivity in distinguishing PA from EH was reached by multiplication of the aldosterone to renin-ratio (ARR) with the SUSPPUP formula (92.7% at a cut off > 110 L/mmol), highest specificity was reached by the SUSPPUP determinations (87.2%). The integration of the SUSPPUP ratio into the ARR helps to improve the diagnosis of hyperaldosteronism substantially.

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“…Primary aldosteronism (PA) is the most common and curable form of secondary arterial hypertension. Most diagnosed cases of PA are mainly caused by either aldosterone overproduction by both adrenal glands or unilateral aldosterone-producing adenomas (APA) [ 1 ]. However, about 5% of cases are inherited forms of familial hyperaldosteronism (FH) [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism

Chen

et al. 2021

BMC Bioinformatics

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Background Glucocorticoid-remediable aldosteronism (GRA) is a form of heritable hypertension caused by a chimeric fusion resulting from unequal crossing over between 11β‐hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), which are two genes with similar sequences. Different crossover patterns of the CYP11B1 and CYP11B2 chimeric genes may be associated with a variety of clinical presentations. It is therefore necessary to develop an efficient approach for identifying the differences between the hybrid genes of a patient with GRA. Results We developed a long-read analysis pipeline named GRAde (GRA deciphering), which utilizes the nonidentical bases in the CYP11B1 and CYP11B2 genomic sequences to identify and visualize the chimeric form. We sequenced the polymerase chain reaction (PCR) products of the CYP11B1/CYP11B2 chimeric gene from 36 patients with GRA using the Nanopore MinION device and analyzed the sequences using GRAde. Crossover events were identified for 30 out of the 36 samples. The crossover sites appeared in the region exhibiting high sequence similarity between CYP11B1 and CYP11B2, and 53.3% of the cases were identified as having a gene conversion in intron 2. More importantly, there were six cases for whom the PCR products indicated a chimeric gene, but the GRAde results revealed no crossover pattern. The crossover regions were further verified by Sanger sequencing analysis. Conclusions PCR-based target enrichment followed by long-read sequencing is an efficient and precise approach to dissecting complex genomic regions, such as those involved in GRA mutations, which could be directly applied to clinical diagnosis. The scripts of GRAde are available at https://github.com/hsu-binfo/GRAde.

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A short review of primary aldosteronism in a question and answer fashion

Cited by 7 publications

References 107 publications

Hypokalemia: a clinical update

Hypokalemia: a clinical update

Aldosterone-Mediated Sodium Retention Is Reflected by the Serum Sodium to Urinary Sodium to (Serum Potassium)2 to Urinary Potassium (SUSPPUP) Index

GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism

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