11,268 results match your criteria Conn Syndrome

Comparison of Echocardiographic Changes Between Surgery and Medication Treatment in Patients With Primary Aldosteronism.

J Am Heart Assoc 2022 Jun 29:e023813. Epub 2022 Jun 29.

Endocrinology and Diabetes Center Yokohama Rosai Hospital Yokohama Japan.

Background Primary aldosteronism can cause cardiac dysfunction, including left ventricular hypertrophy, left ventricular diastolic dysfunction, and left atrial enlargement. A few studies have compared the cardioprotective effects between surgery and medication for primary aldosteronism, although most have not adjusted for baseline disease status. In this study, we investigated the difference in cardiovascular outcomes between surgery and medication treatment for primary aldosteronism after adjusting for baseline clinical characteristics, including aldosterone level and pretreatment echocardiographic information. Read More

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A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.

BMC Nephrol 2022 Jun 27;23(1):227. Epub 2022 Jun 27.

Department of Obstetrics and Gynecology, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.

Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Read More

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A Novel Somatic Mutation of p.V1937M in Unilateral Primary Hyperaldosteronism.

Front Endocrinol (Lausanne) 2022 9;13:816476. Epub 2022 Jun 9.

Department of Urology, National Taiwan University College of Medicine and Hospital, Taipei, Taiwan.

Background: Somatic mutations for excess aldosterone production have been frequently identified as important roles in the pathogenesis of unilateral primary hyperaldosteronism (uPA). Although mutation represents a minor etiology in primary aldosteronism, it plays a significant role in causing uPAs in sporadic cases.

Objective: To identify novel somatic mutation in patients with uPA and investigate the pathophysiological, immunohistological, and clinical characteristics of the variant. Read More

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[Testosterone inhibits human wild-type and chimeric aldosterone synthase activity in vitro].

Rev Med Chil 2021 Nov;149(11):1539-1543

Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: Familial hyperaldosteronism type I is caused by the generation of a chimeric aldosterone synthase enzyme (ASCE) which is regulated by ACTH instead of angiotensin II. We have reported that in vitro, the wild-type (ASWT) and chimeric aldosterone synthase (ASCE) enzymes are inhibited by progesterone and estradiol does not affect their activity.

Aim: To explore the direct action of testosterone on ASWT and ASCE enzymes. Read More

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November 2021

A Case of a Pregnant Woman With Primary Aldosteronism and Superimposed Preeclampsia Treated With Esaxerenone.

J Endocr Soc 2022 Aug 29;6(8):bvac085. Epub 2022 May 29.

Department of Endocrinology and Hypertension, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

During pregnancy, there is no established treatment for idiopathic hyperaldosteronism (IHA), the most common form of primary aldosteronism due to bilateral adrenal hyperplasia. Here, we report the case of a pregnant patient with IHA who was successfully treated with esaxerenone, a nonsteroidal mineralocorticoid receptor (MR) antagonist. A 39-year-old woman was diagnosed with IHA and commenced on nifedipine 20 mg daily because she desired to be pregnant. Read More

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Liddle syndrome misdiagnosed as primary aldosteronism is caused by inaccurate aldosterone-rennin detection while a novel mutation is discovered.

Blood Press 2022 12;31(1):139-145

Department of Endocrinology, Shanghai Public Health Clinical Center, Shanghai, China.

Purpose: Through describing the confusing misdiagnosis process of Liddle syndrome, we try to reveal the importance of accurate aldosterone-renin detection and a genetic test for Liddle syndrome.

Methods: We found a family of hypertension and hypokalaemia with the proband of a 21-year-old female who had been misdiagnosed as primary aldosteronism (PA). She presented with high aldosterone and low renin levels. Read More

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December 2022

Familial Hyperaldosteronism Type 3 with a Rapidly Growing Adrenal Tumor: An In Situ Aldosterone Imaging Study.

Curr Issues Mol Biol 2021 Dec 28;44(1):128-138. Epub 2021 Dec 28.

Department of Urology and Andrology, Kansai Medical University, Osaka 573-1191, Japan.

Primary aldosteronism is most often caused by aldosterone-producing adenoma (APA) and bi-lateral adrenal hyperplasia. Most APAs are caused by somatic mutations of various ion channels and pumps, the most common being the inward-rectifying potassium channel . Germ line mutations of cause familial hyperaldosteronism type 3 (FH3), which is associated with severe hyperaldosteronism and hypertension. Read More

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December 2021

Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance.

Front Pediatr 2022 3;10:908655. Epub 2022 Jun 3.

Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania.

Bartter syndrome (BS) is a rare tubulopathy that causes polyuria, hypokalemia, hypochloremic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical, and allelic heterogeneity. Types 1-4 of BS are inherited according to an autosomal recessive pattern, while type 5, which is transient, is X linked. Read More

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Clinical Course of Patients with Bartter Syndrome.

Iran J Kidney Dis 2022 May;16(3):162-170

1Intrdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Brazil.

Introduction: Bartter syndrome (BS) is a salt losing tubulopathy due to impairment of the transport mechanisms at the thick ascending limb of the Henle's loop. The aim of this study was to report the clinical course of patients with BS.

Methods: Patients with BS were followed from 1996 to 2020 and enrolled to a systematic protocol to confirm primary BS by evaluating the metabolic derangements, nephrolithiasis and nephrocalcinosis. Read More

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Effects of Ketoconazole on the Clinical Recovery in Central Serous Chorioretinopathy.

Clin Ophthalmol 2022 9;16:1871-1882. Epub 2022 Jun 9.

Department of Ophthalmology, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, 10400, Thailand.

Purpose: Patients with hypercortisolism have been associated with a higher prevalence of the pachychoroid spectrum including central serous chorioretinopathy (CSCR), which may explain the inconsistency of therapeutic responses of the mineralocorticoid receptor antagonist because hyperaldosteronism has rarely been detected in patients with CSCR. Therefore, this study aimed to evaluate the effects of ketoconazole, the first-line cortisol inhibitor, on the resolution of subretinal fluid (SRF) in CSCR and to analyze correlations between choroidal thickness and steroid hormones.

Patients And Methods: This retrospective cohort study included 41 naïve CSCR eyes of 41 patients categorized into control (20 eyes) and treatment (21 eyes) groups. Read More

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11C-Metomidate PET-CT versus adrenal vein sampling to subtype primary aldosteronism: a prospective clinical trial.

J Hypertens 2022 Jun;40(6):1179-1188

Yong Loo Lin School of Medicine, National University of Singapore (NUS).

Objective: Adrenal vein sampling (AVS) is recommended to subtype primary aldosteronism, but it is technically challenging. We compared 11C-Metomidate-PET-computed tomography (PET-CT) and AVS for subtyping of primary aldosteronism.

Methods: Patients with confirmed primary aldosteronism underwent both AVS and 11C-Metomidate PET-CT (post-dexamethasone). Read More

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Conn's Syndrome: An Unusual Cause of Periodic Paralysis.

Cureus 2022 May 10;14(5):e24880. Epub 2022 May 10.

Internal Medicine, Hospital Beatriz Ângelo, Loures, PRT.

Primary hyperaldosteronism, also known as Conn's syndrome, is characterized by an independent and excessive aldosterone production in the adrenal cortex, causing hypernatremia, arterial hypertension, and, in some cases, potentially severe hypokalemia can occur. We report a case of a 45-year-old Caucasian woman, with a history of obesity and hypertension, who presented to the emergency room with a four-week evolution history of myalgia and ascending muscle weakness eventually resulting in tetraparesis. The initial blood analysis showed severe hypokalemia (1. Read More

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'I can't understand why others don't screen more': a qualitative study exploring why Australian general practitioners screen for primary aldosteronism.

BMJ Open 2022 Jun 13;12(6):e061671. Epub 2022 Jun 13.

Department of General Practice, Monash University, Clayton, Victoria, Australia

Objective: We sought to understand the factors that influence a general practitioner's (GP's) experience of screening for primary aldosteronism (PA) in hypertensive patients.

Design: A qualitative study, framed by phenomenology, using semistructured interviews that were audiorecorded, transcribed verbatim, entered into NVivo V.12. Read More

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A novel mutation of gene causing Gitelman syndrome.

SAGE Open Med Case Rep 2022 7;10:2050313X221102294. Epub 2022 Jun 7.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

A 48-year-old patient with a history of diabetes mellitus, presented to a surgical ward with abdominal pain. She was found to have hypokalemia. Her younger sister had passed away due to sudden cardiac death at the age of 25 years. Read More

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Successful resolution of ectopic Cushing syndrome by minimally invasive thoracoscopic resection of the neuroendocrine tumor of the thymus: a rare case report.

BMC Surg 2022 Jun 11;22(1):226. Epub 2022 Jun 11.

Department of Thoracic Surgery, University Medical Center Mainz, Johannes Gutenberg University Mainz, Mainz, Germany.

Background: Ectopic Cushing syndrome (ECS) is a sporadic condition. Even uncommon is an ECS that derives from a carcinoid tumor of the thymus. These tumors may pose several diagnostic and therapeutic conundrums. Read More

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Management and Outcomes of Primary Aldosteronism in Pregnancy: A Systematic Review.

Hypertension 2022 Jun 10:101161HYPERTENSIONAHA12118858. Epub 2022 Jun 10.

Hypertension and Emergency Unit, Department of Medicine - DIMED, University of Padua, Italy. (V.S., T.M.S., G.P.R.).

Primary aldosteronism (PA) in pregnancy (PAP) can be a serious condition and is challenging to diagnose. This study was conceived to help in the diagnosis of PAP and provide suggestions on management of PAP based on evidence retrieved using a Population, Intervention, Comparison, and Outcome search strategy. Based on the changes of aldosterone and renin occurring in normal pregnancies, we developed a nomogram that will allow to identify PAP cases. Read More

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Primary Aldosteronism and Ischemic Heart Disease.

Front Cardiovasc Med 2022 23;9:882330. Epub 2022 May 23.

Department of Cardiology, Einstein Medical Center, Philadelphia, PA, United States.

Cardiovascular disease, in particular ischemic heart disease is a major cause of morbidity and mortality worldwide. Primary aldosteronism is the leading cause of secondary hypertension, yet commonly under diagnosed, and represents a major preventable risk factor. In contrast to historical teaching, recent studies have shown that excess aldosterone production is associated with increased burden of ischemic heart disease disproportionate to the effects caused by hypertension alone. Read More

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The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

J Endocr Soc 2022 Jul 15;6(7):bvac079. Epub 2022 May 15.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford OX3 7LJ, UK.

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypomagnesemia and hypocalciuria are typical of GS, while juxtaglomerular hyperplasia is characteristic of BS. Read More

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Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Int J Mol Sci 2022 May 18;23(10). Epub 2022 May 18.

Nephrology and Dialysis Unit, Meyer Children's Hospital, 50139 Florence, Italy.

Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype-phenotype correlations have important implications in defining kidney and global outcomes. The aim of our study was to assess the diagnostic rate of whole-exome sequencing (WES) coupled with a bioinformatic analysis of copy number variations in a population of 63 patients with BS and GS from a single institution, and to explore genotype-phenotype correlations. Read More

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Genetic Alterations in Benign Adrenal Tumors.

Biomedicines 2022 Apr 30;10(5). Epub 2022 Apr 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

The genetic basis of most types of adrenal adenomas has been elucidated over the past decade, leading to the association of adrenal gland pathologies with specific molecular defects. Various genetic studies have established links between variants affecting the protein kinase A (PKA) signaling pathway and benign cortisol-producing adrenal lesions. Specifically, genetic alterations in , , , , , and have been identified. Read More

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Author Correction: Elevated aldosterone and blood pressure in a mouse model of familial hyperaldosteronism with ClC-2 mutation.

Nat Commun 2022 May 27;13(1):3066. Epub 2022 May 27.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin Berlin Institute of Health, Department of Nephrology and Medical Intensive Care, Augustenburger Platz 1, Berlin, 13353, Germany.

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Pathophysiology of bilateral hyperaldosteronism.

Curr Opin Endocrinol Diabetes Obes 2022 06;29(3):233-242

Department of Molecular and Integrative Physiology.

Purpose Of Review: Renin-independent aldosterone production from one or both affected adrenal(s), a condition known as primary aldosteronism (PA), is a common cause of secondary hypertension. In this review, we aimed to summarize recent findings regarding pathophysiology of bilateral forms of PA, including sporadic bilateral hyperaldosteronism (BHA) and rare familial hyperaldosteronism.

Recent Findings: The presence of subcapsular aldosterone synthase (CYP11B2)-expressing aldosterone-producing micronodules, also called aldosterone-producing cell clusters, appears to be a common histologic feature of adrenals with sporadic BHA. Read More

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Divergent Characteristics of T-Cell Receptor Repertoire Between Essential Hypertension and Aldosterone-Producing Adenoma.

Front Immunol 2022 10;13:853403. Epub 2022 May 10.

Master Program in Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei, Taiwan.

Aldosterone-producing adenoma (APA) is a benign adrenal tumor that results in persistent hyperaldosteronism. As one major subtype of primary aldosteronism, APA leads to secondary hypertension that is associated with immune dysregulation. However, how the adaptive immune system, particularly the T-cell population, is altered in APA patients remains largely unknown. Read More

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Radiomics utilization to differentiate nonfunctional adenoma in essential hypertension and functional adenoma in primary aldosteronism.

Sci Rep 2022 May 25;12(1):8892. Epub 2022 May 25.

Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.

We performed the present study to investigate the role of computed tomography (CT) radiomics in differentiating nonfunctional adenoma and aldosterone-producing adenoma (APA) and outcome prediction in patients with clinically suspected primary aldosteronism (PA). This study included 60 patients diagnosed with essential hypertension (EH) with nonfunctional adenoma on CT and 91 patients with unilateral surgically proven APA. Each whole nodule on unenhanced and venous phase CT images was segmented manually and randomly split into training and test sets at a ratio of 8:2. Read More

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Transvenous Radiofrequency Ablation of Adrenal Gland: Experimental Study.

Cardiovasc Intervent Radiol 2022 May 23. Epub 2022 May 23.

Department of Diagnostic Radiology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-0872, Japan.

Purpose: The aim was to evaluate a flexible device for transvenous adrenal gland radiofrequency ablation in vitro and in an in vivo animal model.

Materials And Methods: A flexible radiofrequency-tip catheter with an inner-cooling mechanism and a guidewire lumen was made. Then, using a polyvinyl alcohol gel model, the ablation diameter was evaluated and how much energy to deliver in vivo was determined. Read More

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Assessment and management of Primary Aldosteronism in pregnancy (AMPA): a case control study.

J Clin Endocrinol Metab 2022 May 15. Epub 2022 May 15.

Department of Renal Medicine, South Western Sydney Local Health District (SWSLHD), New South Wales (NSW), Australia.

Context: Primary aldosteronism (PA) is a common secondary cause of hypertension. Literature regarding PA in pregnancy has demonstrated poor outcomes.

Objective: Compare the management and outcomes of PA in pregnancy to both high and low-risk matched controls. Read More

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Primary Aldosteronism and Resistant Hypertension: A Pathophysiological Insight.

Int J Mol Sci 2022 Apr 27;23(9). Epub 2022 Apr 27.

Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Corso Dogliotti 14, 10126 Turin, Italy.

Primary aldosteronism (PA) is a pathological condition characterized by an excessive aldosterone secretion; once thought to be rare, PA is now recognized as the most common cause of secondary hypertension. Its prevalence increases with the severity of hypertension, reaching up to 29.1% in patients with resistant hypertension (RH). Read More

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Dissecting the Effects of Aldosterone and Hypokalemia on the Epithelial Na Channel and the NaCl Cotransporter.

Front Physiol 2022 26;13:800055. Epub 2022 Apr 26.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

Primary hyperaldosteronism (PA) is characterized by aldosterone excess and hypertension. This may be linked to increased renal Na reabsorption the epithelial Na channel (ENaC) and the NaCl cotransporter (NCC). The majority of PA patients have normal plasma K levels, but a subset of cases are associated with hypokalemia. Read More

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Benefits of Surgical Over Medical Treatment for Unilateral Primary Aldosteronism.

Front Endocrinol (Lausanne) 2022 26;13:861581. Epub 2022 Apr 26.

Department of Medicine (Division of Nephrology) and the Ottawa Hospital Research Institute, University of Ottawa, Ottawa, ON, Canada.

Primary aldosteronism is the most common and modifiable form of secondary hypertension. Left untreated, primary aldosteronism leads high rates of cardiovascular, metabolic, and kidney disease. Therefore, early diagnosis and targeted therapy are crucial to improve long-term patient outcomes. Read More

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Autonomous cortisol secretion is associated with worse arterial stiffness and vascular fibrosis in primary aldosteronism: a cross-sectional study with follow-up data.

Eur J Endocrinol 2022 Jun 7;187(1):197-208. Epub 2022 Jun 7.

Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Objective: The presence of autonomous cortisol secretion (ACS) in patients with primary aldosteronism (PA) is common and potentially associated with poor outcomes. The aim of this study was to investigate the association between ACS and vascular remodeling in PA patients.

Design And Methods: We prospectively enrolled 436 PA patients from October 2006 to November 2019. Read More

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