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1.
Medicine (Baltimore) ; 103(36): e39468, 2024 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-39252231

RESUMO

Primary aldosteronism (PA) and obstructive sleep apnea (OSA) are both considered independent risk factors for hypertension, which can lead to an increase in cardiovascular disease incidence and mortality. Clinical studies have found a bidirectional relationship between OSA and PA. However, the underlying mechanism between them is not yet clear. This study aims to investigate the shared genetic characteristics and potential molecular mechanisms of PA and OSA. We obtained microarray datasets of aldosterone-producing adenoma (APA) and OSA from the gene expression omnibus (GEO) database. Weighted gene co-expression network analysis (WGCNA) was used to select co-expression modules associated with APA and OSA, and common genes of the two diseases were obtained by intersection. Subsequently, hub genes for APA and OSA were identified through functional enrichment analysis, protein-protein interaction (PPI), datasets, and public database. Finally, we predicted the transcription factors (TFs) and mirRNAs of the hub genes. In total, 52 common genes were obtained by WGCNA. The Gene Ontology (GO) of common genes includes interleukin-1 response, cytokine activity, and chemokine receptor binding. Functional enrichment analysis highlighted the TNF, IL-17 signaling, and cytokine-cytokine receptor interactions related to APA and OSA. Through PPI, datasets, and public databases verification, we identified 5 hub genes between APA and OSA (IL6, ATF3, PTGS2, CCL2, and CXCL2). Our study identified shared 5 hub genes between APA and OSA (IL6, ATF3, PTGS2, CCL2, and CXCL2). Through bioinformatics analysis, we found that the 2 disorders showed relative similarity in terms of inflammation, stress, and impaired immune function. The identification of hub genes may offer potential biomarkers for the diagnosis and prognosis of PA and OSA.


Assuntos
Biologia Computacional , Hiperaldosteronismo , Apneia Obstrutiva do Sono , Humanos , Apneia Obstrutiva do Sono/genética , Apneia Obstrutiva do Sono/complicações , Biologia Computacional/métodos , Hiperaldosteronismo/genética , Hiperaldosteronismo/complicações , Mapas de Interação de Proteínas , Redes Reguladoras de Genes , Perfilação da Expressão Gênica
2.
G Ital Cardiol (Rome) ; 25(9): 660-672, 2024 Sep.
Artigo em Italiano | MEDLINE | ID: mdl-39239817

RESUMO

Hypertension does not recognize obvious pathogenic causes in the majority of patients (essential hypertension). However, a secondary underlying cause of hypertension can be recognized in 5-10% of unselected hypertensive patients, and this prevalence may increase to more than 20% in patients with hypertension that is difficult to control or frankly resistant to treatment. In children, secondary hypertension is most often due to aortic coarctation, distal thoracic or abdominal aortic stenosis, or specific gene mutations. In adults or elderly individuals, secondary hypertension is most often due to atherosclerotic renal artery stenosis, primary hyperaldosteronism, and Cushing's disease or syndrome. Parenchymal nephropathy and hyperparathyroidism can cause hypertension at all ages, while pheochromocytoma and paraganglioma tend to occur more often in adolescents or young adults. In general, secondary hypertension should be suspected in subjects with: (a) onset of hypertension under 30 years of age especially if in the absence of hypertensive family history or other risk factors for hypertension; (b) treatment-resistant hypertension; c) severe hypertension (>180/110 mmHg), malignancy, or hypertensive emergencies; d) rapid rise in blood pressure values in previously well controlled patients. Any clinical signs suspicious or suggestive of hypertension from endocrine causes, a "reverse dipping" or "non-dipping'" profile at 24 h ambulatory blood pressure monitoring not justified by other factors, signs of obvious organ damage may be helpful clues for diagnosis. Finally, patients snoring or with clear sleep apnea should also be considered for possible secondary hypertension.


Assuntos
Hipertensão , Humanos , Hipertensão/etiologia , Hipertensão/diagnóstico , Adulto , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/complicações , Hiperaldosteronismo/terapia , Criança , Anti-Hipertensivos/uso terapêutico , Coartação Aórtica/diagnóstico , Coartação Aórtica/complicações , Coartação Aórtica/terapia
3.
Ann Afr Med ; 23(4): 567-574, 2024 Oct 01.
Artigo em Francês, Inglês | MEDLINE | ID: mdl-39164941

RESUMO

CONTEXT: Adrenal incidentalomas (AIs) are relatively uncommon neoplasms in 2% of apparently healthy individuals requiring evaluation for functionality and malignancy. AIM: We aimed to study the clinical, biochemical, and radiological profiles of patients presenting with AI and histopathological outcomes of those undergoing adrenalectomy. Materials and Methods: This retrospective study enrolled 62 AI patients attending a tertiary care center in South India between January 2016 and October 2023. Demographic details, radiological features, functionality, and histopathological data were analyzed. RESULTS: Out of 62 patients, total masses evaluated were 65 indicating bilaterality in 3 patients. The female: male ratio was 1.69, with a median age of 55 years (interquartile range: 44-64 years). 45.1% of individuals were >60 years. The most common indication for imaging was pain abdomen in 43 (69.4%). The median size was 3.2 cm. Fifty-five (88.7%) were assessed for functionality and 27 (49.1%) were functional. Among the 62 individuals, 14 (20.2%) had hypercortisolism, 11 (15.9%) had pheochromocytoma, 5 (7.24%) had primary hyperaldosteronism (PA), and 4 (5.7%) had hyperandrogenism including plurihormonal in 7. A mass size of 3.2 cm was of great value in distinguishing functional tumors with a sensitivity of 72% and specificity of 66% with an area under the curve of 0.682. A total of 34 (54.8%) patients underwent adrenalectomy. On histopathological examination, Adenoma (44.1%) was the most common followed pheochromocytoma (26.5%), adrenal cysts (8.8%), and Myelolipoma (5.9%). Two (5.9%) incidentalomas were adrenocortical carcinoma (ACC). Eight (53.3%) adenomas were functional with 6 having hypercortisolism (including 1 with hyperandrogenism) and 2 with PA. CONCLUSION: In our experience, the incidence of pheochromocytoma was second most common after adenoma. Since most functional tumors (60%) and all ACCs were ≥4 cm, a thorough biochemical evaluation for hormonal excess and evaluation for malignancy followed by surgery should be considered for lesions, especially ≥4 cm. Thus, we report the baseline demographic and clinical characteristics of patients with AI from a single center in South India.


Résumé Contexte:Les incidents surrénaliens (AIS) sont des néoplasmes relativement rares chez 2% des individus apparemment en bonne santé nécessitant une évaluation de la fonctionnalité et de la malignité. Objectif: Nous visions à étudier les profils cliniques, biochimiques et radiologiques des patients présentant IA et résultats histopathologiques de ceux qui subissent une surrénalectomie.Matériaux et méthodes:Cette étude rétrospective a inscrit 62 patients AI fréquentant un centre de soins tertiaires dans le sud de l'Inde entre janvier 2016 et octobre 2023. Les détails démographiques, les caractéristiques radiologiques, les fonctionnalités et les données histopathologiques ont été analysés.Résultats:Sur 62 patients, les masses totales évaluées étaient 65 indiquant la bilatéralité chez 3 patients. Le ratio féminin: mâle était de 1,69, avec un âge médian de 55 ans (intervalle interquartile: 44­64 ans). 45,1% des individus étaient> 60 ans. L'indication la plus courante pour l'imagerie était l'abdomen de la douleur dans 43 (69,4%). La taille médiane était de 3,2 cm. Cinquante-cinq (88,7%) ont été évaluées pour les fonctionnalités et 27 (49,1%) étaient fonctionnelles. Parmi les 62 individus, 14 (20,2%) avaient un hypercortisolisme, 11 (15,9%) Le phéochromocytome, 5 (7,24%) avait une hyperaldostéronisme primaire (PA), et 4 (5,7%) avaient l'hyperandrogénisme, y compris le plurihormonal dans 7. Une taille de masse de 3,2 cm était d'une grande valeur dans la distinction des tumeurs fonctionnelles avec une sensibilité de 72% et une spécificité distinctive de 66% avec une zone sous la courbe de 0,682. Au total, 34 (54,8%) patients ont subi une surrénalectomie. À l'examen histopathologique, l'adénome (44,1%) était le phéochromocytome suivi le plus courant (26,5%), les kystes surrénaliens (8,8%) et le myélolipome (5,9%). Deux incidentsalomes (5,9%) étaient un carcinome surrénocortical (ACC). Huit (53,3%) adénomes étaient fonctionnels avec 6 souffrant d'hypercortisolisme (dont 1 avec l'hyperandrogénisme) et 2 avec PA.Conclusion:D'après notre expérience, l'incidence du phéochromocytome était la deuxième plus courante après l'adénome. Étant donné que la plupart des tumeurs fonctionnelles (60%) et tous les ACC étaient ≥ 4 cm, une évaluation biochimique approfondie pour l'excès hormonal et l'évaluation de la malignité suivie d'une chirurgie doivent être envisagées pour les lésions, en particulier ≥4 cm. Ainsi, nous rapportons les caractéristiques démographiques et cliniques de base des patients atteints d'IA d'un seul centre du sud de l'Inde.


Assuntos
Neoplasias das Glândulas Suprarrenais , Adrenalectomia , Feocromocitoma , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Estudos Retrospectivos , Neoplasias das Glândulas Suprarrenais/epidemiologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Índia/epidemiologia , Adulto , Feocromocitoma/epidemiologia , Feocromocitoma/cirurgia , Feocromocitoma/patologia , Feocromocitoma/diagnóstico , Síndrome de Cushing/epidemiologia , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/cirurgia , Hiperaldosteronismo/epidemiologia , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/cirurgia , Idoso
4.
J Med Case Rep ; 18(1): 362, 2024 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-39118166

RESUMO

BACKGROUND: Hypokalemic rhabdomyolysis is a rare clinical manifestation of primary aldosteronism, making its diagnosis challenging, particularly when it becomes the primary presenting symptom. Herein, we present a case of primary aldosteronism with hypokalemic rhabdomyolysis and conduct a related literature review. CASE PRESENTATION: We report the case of a 54-year-old Chinese male patient who presented with intermittent weakness over the past year and was admitted with sudden limb paralysis for 2 days. The final diagnosis was primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. By reviewing the related Chinese and English literature, we noticed that only a few cases were published since 1978. After excluding irrelevant literatures, we summarized and analyzed 43 patients of with primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. All patients showed good recovery, with normalized blood potassium levels, and a majority achieved normalized blood pressure. Some patients still required medication for blood pressure control. CONCLUSIONS: Primary aldosteronism rarely causes rhabdomyolysis; the occurrence of severe hypokalemia and rhabdomyolysis should prompt consideration of primary aldosteronism in the differential diagnosis. Early detection and treatment are crucial for determining patient prognosis.


Assuntos
Hiperaldosteronismo , Hipopotassemia , Rabdomiólise , Humanos , Masculino , Rabdomiólise/etiologia , Rabdomiólise/complicações , Rabdomiólise/diagnóstico , Pessoa de Meia-Idade , Hiperaldosteronismo/complicações , Hiperaldosteronismo/diagnóstico , Hipopotassemia/etiologia , Hipopotassemia/diagnóstico , Diagnóstico Diferencial , Potássio/sangue , Potássio/uso terapêutico
5.
Sci Rep ; 14(1): 18091, 2024 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-39103362

RESUMO

Apparent resistant hypertension (aTRH) is a significant public health issue. Once low adherence to antihypertensive treatment has been ruled out and true resistant hypertension is diagnosed, aldosterone-direct-renin-ratio (ADRR) aids in the screening of an aldosterone-producing adenoma (APA) and primary aldosteronism (PA). Once PA and other secondary causes have been ruled out, the values of aldosterone and renin allow patients to be classified into phenotypes such as low renin hypertension (LRH), Liddle's-like (LLph), and primary hyperaldosteronism (PAph). These classifications could aid in the treatment decision-making process. However, optimal cut-off points for these classifications remain uncertain. This study aims to assess the prevalence of these phenotypes and the behavior of different cut-offs of the ADRR in an Afro-Colombian population with apparent resistant hypertension, as well to describe their sodium consumption. Afro-descendant individuals 18 years of age or older, diagnosed with resistant hypertension and attending to a primary care center in Colombia were recruited as volunteers. As part of the study, their plasma renin concentration (PRC) and plasma aldosterone concentration (PAC) were measured. The phenotypes were categorized into three groups based on multiple cut-off points from different authors: low renin and low aldosterone phenotype (LLph), low renin and high aldosterone phenotype (PAph), and high renin and high aldosterone phenotype, referred to as the renal phenotype (Rph). The prevalence of ADRR values exceeding the cut-off and phenotypes were calculated. A linear regression model was derived to assess the effect of sodium consumption with PAC, PRC and ADRR. A total of 88 patients with aTRH were included. Adherence to at least 3 antihypertensive medications was 62.5%. The median age was 56 years (IQR 48-60), 44% were female, and 20% had diabetes. The study found that the prevalence of ADRR values exceeding the cut-off ranged from 4.5 to 23%, while low-renin hypertension (LRH) varied from 15 to 74%, Rph was found in approximately 30 to 34% of patients, PAph in 30 to 51%, and the LLph in 15 to 41%, respectively, depending on the specific cut-off value by different authors. Notably, sodium consumption was associated with lower aldosterone (ß - 0.15, 95% CI [- 0.27, - 0.03]) and renin concentrations (ß - 0.75, 95% CI [- 1.5, - 0.02]), but ADRR showed no significant association with sodium consumption. There were no significant differences in prevalences between the groups taking < 3 vs ≥ 3 antihypertensive medications. Altered aldosterone-direct-renin-ratio, low renin hypertension, Liddle's-like, and primary hyperaldosteronism are prevalent phenotypes in patients within Afro-Colombian patients with apparent treatment-Resistant hypertension.


Assuntos
Aldosterona , Anti-Hipertensivos , Hipertensão , Fenótipo , Renina , Humanos , Renina/sangue , Aldosterona/sangue , Hipertensão/tratamento farmacológico , Hipertensão/epidemiologia , Hipertensão/sangue , Feminino , Pessoa de Meia-Idade , Masculino , Adulto , Anti-Hipertensivos/uso terapêutico , Hiperaldosteronismo/sangue , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/tratamento farmacológico , Hiperaldosteronismo/epidemiologia , População Negra , Idoso , Resistência a Medicamentos
6.
J Am Heart Assoc ; 13(15): e034180, 2024 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-39101507

RESUMO

BACKGROUND: Observational studies have reported associations between primary aldosteronism (PA) and cardiovascular outcomes, including coronary artery diseases (CAD), congestive heart failure (CHF), and stroke. However, establishing causality remains a challenge due to the lack of randomized controlled trial data on this topic. We thus aimed to investigate the causal relationship between PA and the risk of developing CAD, CHF, and stroke. METHODS AND RESULTS: Cross-ancestry meta-analysis of genome-wide association studies combining East Asian and European ancestry (1560 PA cases and 742 139 controls) was conducted to identify single-nucleotide variants that are associated with PA. Then, using the identified genetic variants as instrumental variables, we conducted the 2-sample Mendelian randomization analysis to investigate the causal relationship between PA and incident CAD, CHF, and stroke among both East Asian and European ancestry. Summary association results were extracted from large genome-wide association studies consortia. Our cross-ancestry meta-analysis of East Asian and European populations identified 7 genetic loci significantly associated with the risk of PA, for which the genes nearest to the lead variants were CASZ1, WNT2B, HOTTIP, LSP1, TBX3, RXFP2, and NDP. Among the East Asian population, the pooled odds ratio estimates using these 7 genetic instruments of PA were 1.07 (95% CI, 1.03-1.11) for CAD, 1.10 (95% CI, 1.01-1.20) for CHF, and 1.13 (95% CI, 1.09-1.18) for stroke. The results were consistent among the European population. CONCLUSIONS: Our 2-sample Mendelian randomization study revealed that PA had increased risks of CAD, CHF, and stroke. These findings highlight that early and active screening of PA is critical to prevent future cardiovascular events.


Assuntos
Estudo de Associação Genômica Ampla , Hiperaldosteronismo , Análise da Randomização Mendeliana , Polimorfismo de Nucleotídeo Único , Humanos , Hiperaldosteronismo/genética , Hiperaldosteronismo/epidemiologia , Doença da Artéria Coronariana/genética , Doença da Artéria Coronariana/epidemiologia , Predisposição Genética para Doença , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/epidemiologia , Povo Asiático/genética , Insuficiência Cardíaca/genética , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/etnologia , População Branca/genética , Medição de Risco , Fatores de Risco
8.
Zhonghua Xin Xue Guan Bing Za Zhi ; 52(8): 892-898, 2024 Aug 24.
Artigo em Chinês | MEDLINE | ID: mdl-39143780

RESUMO

Objective: To analyze the anatomical characteristics of the adrenal veins through adrenal venography to improve the success rate of adrenal venography (AVS). Methods: This study was a cross-sectional study. Patients who were diagnosed with primary aldosteronism and underwent AVS from January 2019 to October 2023 at the First Affiliated Hospital of Dalian Medical University were included. Adrenal vein imaging was collected from the enrolled patients. We performed statistical analysis on the adrenal vein orifice position, inflow angle, and adrenal venography morphology. The adrenal venous orifice was defined as the location where the catheter was placed at the end of the calm inhalation. Spearman correlation analysis was used to explore the relationship between the positions of bilateral adrenal vein orifices and body mass index (BMI). Results: A total of 282 patients with successful bilateral AVS and complete bilateral adrenal vein imaging were enrolled, of whom 57.1% (161/282) were male and the age was (53.3±10.7) years old. The orifice of the left adrenal vein was located between the middle segment of the 11th thoracic vertebra and the upper segment of the 2nd lumbar vertebra. The inflow angle relative to the position of the orifice was all leftward and upward. The orifice of the right adrenal vein was located between the upper segment of the 11th thoracic vertebra and the lower segment of the 1st lumbar vertebra, and 91.1% (257/282) had a rightward and downward angle of inflow relative to the position of the orifice. The position of the adrenal vein orifices on both the left (r=0.211, P<0.001) and right (r=0.196, P=0.001) showed positive correlation with BMI. The position of the right adrenal vein orifice also increased with the position of the left adrenal orifice (r=0.530, P<0.001). The most common adrenal venography morphology on the right side was triangular (36.5%, 103/282), while the most common venography morphology on the left side was glandular (66.3%, 187/282). Conclusions: The anatomical morphology of adrenal veins are diverse. Being familiar with the morphological characteristics of the adrenal vein and identifying the adrenal vein accurately during surgery has important clinical value in improving the success rate of AVS.


Assuntos
Glândulas Suprarrenais , Hiperaldosteronismo , Flebografia , Veias , Humanos , Hiperaldosteronismo/diagnóstico por imagem , Masculino , Glândulas Suprarrenais/irrigação sanguínea , Glândulas Suprarrenais/diagnóstico por imagem , Estudos Transversais , Pessoa de Meia-Idade , Feminino , Veias/diagnóstico por imagem , Veias/anatomia & histologia , Flebografia/métodos , Adulto
9.
Eur J Endocrinol ; 191(2): 262-270, 2024 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-39166829

RESUMO

OBJECTIVE: Previous studies focusing on primary aldosteronism (PA) and thyroid diseases were controversial. Hence, this study aimed to examine associations between thyroid function, thyroid diseases, and PA and its subtypes. DESIGN AND METHODS: This was a cross-sectional study, which enrolled 1023 patients with PA and 6138 patients with essential hypertension (EH) admitted to Hypertension Center of People's Hospital of Xinjiang Uygur Autonomous Region from August 2011 to June 2022. All patients with PA were accurately classified into aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA) by adrenal vein sampling (AVS). Multivariate logistic regression analysis was used to assess the relationship of thyroid function, thyroid nodules, and PA and its subtypes. RESULTS: A total of 7161 patients (327 APA and 696 IHA, and 6138 EH) were included with a mean age of 48.20 ± 8.83 years. PA patients and PA subtypes showed lower FT4, FT3, TT4, TT3, and prevalence of positive TPOAb, meanwhile higher prevalence of thyroid nodules than EH patients (PA: 56.10%, IHA: 56.90%, APA: 54.80%, and EH: 48.90%, respectively). PA (adjusted OR: 1.290, 95% CI: 1.035-1.607, P = .02) and its subtype (IHA) (adjusted OR: 1.316, 95% CI: 1.005-1.724, P = .04) were significantly associated with thyroid nodules. Compared to patients with lower plasma aldosterone concentration (PAC) levels (<12 ng/dL), patients with PAC levels ≥ 12 ng/dL presented a higher prevalence of thyroid nodules. CONCLUSIONS: PA patients had lower thyroid function and higher prevalence of thyroid nodules compared to EH patients. Therefore, the screening of thyroid function and thyroid nodules may be indispensable for PA patients.


Assuntos
Hiperaldosteronismo , Doenças da Glândula Tireoide , Testes de Função Tireóidea , Glândula Tireoide , Humanos , Hiperaldosteronismo/sangue , Hiperaldosteronismo/epidemiologia , Hiperaldosteronismo/diagnóstico , Pessoa de Meia-Idade , Masculino , Feminino , Estudos Transversais , Adulto , Glândula Tireoide/fisiopatologia , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/sangue , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/sangue , China/epidemiologia , Prevalência , Aldosterona/sangue , Hipertensão Essencial/sangue , Hipertensão Essencial/epidemiologia , Hipertensão Essencial/fisiopatologia
10.
Front Endocrinol (Lausanne) ; 15: 1423027, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39170743

RESUMO

Hypertension affects one-third of the adult population worldwide, with primary aldosteronism (PA) accounting for at least 5-10% of these cases. The aldosterone synthase enzyme (CYP11B2) plays a pivotal role in PA manifestation, as increased expression of CYP11B2 leads to excess aldosterone synthesis. Physiological expression of CYP11B2 in humans is normally limited to cells of the adrenal zona glomerulosa under tight homeostatic regulation. In PA, however, there are CYP11B2-positive lesions in the adrenal cortex that autonomously secrete aldosterone, highlighting the dysregulation of adrenal cortex zonation and function as a key aspect of PA pathogenesis. Thus, this review aims to summarize the development of the adrenal glands, the key regulators of adrenal cortex homeostasis, and the dysregulation of this homeostasis. It also discusses the development of CYP11B2 inhibitors for therapeutic use in patients with hypertension, as well as the current knowledge of the effects of CYP11B2 inhibition on adrenal cortex homeostasis and cell fate. Understanding the control of adrenal cell fate may offer valuable insights into both the pathogenesis of PA and the development of alternative treatment approaches for PA.


Assuntos
Glândulas Suprarrenais , Aldosterona , Citocromo P-450 CYP11B2 , Hiperaldosteronismo , Humanos , Aldosterona/metabolismo , Aldosterona/biossíntese , Citocromo P-450 CYP11B2/metabolismo , Hiperaldosteronismo/metabolismo , Hiperaldosteronismo/patologia , Glândulas Suprarrenais/metabolismo , Animais , Córtex Suprarrenal/metabolismo , Córtex Suprarrenal/citologia , Hipertensão/metabolismo , Hipertensão/patologia , Zona Glomerulosa/metabolismo , Diferenciação Celular , Homeostase
12.
Sheng Li Xue Bao ; 76(4): 587-596, 2024 Aug 25.
Artigo em Chinês | MEDLINE | ID: mdl-39192791

RESUMO

Aldosterone-producing adenoma is a subtype of primary aldosteronism. Recent advancements in multi-omics research have led to significant progress in understanding primary aldosteronism at the genetic level. Among the various genes associated with the development of aldosterone-producing adenomas, the KCNJ5 (potassium inwardly rectifying channel, subfamily J, member 5) gene has received considerable attention due to its prevalence as the most common somatic mutation gene in primary aldosteronism. This paper aims to integrate the existing evidence on the involvement of KCNJ5 gene in the pathogenesis of aldosterone-producing adenomas, to enhance the understanding of the underlying mechanisms of aldosterone-producing adenomas from the perspective of genetics, and to provide novel insights for the clinical diagnosis and treatment of aldosterone-producing adenomas.


Assuntos
Neoplasias do Córtex Suprarrenal , Adenoma Adrenocortical , Aldosterona , Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G , Hiperaldosteronismo , Humanos , Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G/genética , Canais de Potássio Corretores do Fluxo de Internalização Acoplados a Proteínas G/metabolismo , Aldosterona/metabolismo , Aldosterona/biossíntese , Hiperaldosteronismo/genética , Hiperaldosteronismo/metabolismo , Adenoma Adrenocortical/genética , Adenoma Adrenocortical/metabolismo , Neoplasias do Córtex Suprarrenal/genética , Neoplasias do Córtex Suprarrenal/metabolismo , Adenoma/genética , Adenoma/metabolismo , Mutação
13.
Curr Probl Cardiol ; 49(10): 102791, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39127431

RESUMO

BACKGROUND: An updated understanding of global prevalence of primary aldosteronism (PA) is essential for the development of primary prevention and management strategies for PA. We aimed to provide update global and regional prevalence of PA and to evaluate cardiovascular risk of PA compared to essential hypertension (EH). METHODS: We systematically searched PubMed, Web of Science, and Embase for studies on the prevalence of PA or cardiovascular risk of PA published up to July 31, 2022 for this meta-analysis. Global prevalence of PA was calculated using random-effects inverse-variance models and cardiovascular risk of PA was estimated using random-effects models. RESULTS: We identified 39 articles for meta-analysis of PA prevalence, and 13 articles were included in the meta-analysis of cardiovascular risk. Global prevalence of PA was 9.4% (95% CI: 8.3-10.5), with a higher prevalence in males than in females. Prevalence of PA was higher in the South-East Asia than in other regions, and higher in lower middle-income countries than in other economic levels, with greater country-specific differences. Compared with EH, PA had an increased risk of coronary artery disease (OR=1.88, 95% CI: 1.41-2.50), stroke (OR=2.50, 95% CI: 2.08-3.02), heart failure (OR=2.06, 95% CI: 1.33-3.19), and atrial fibrillation (OR=3.17, 95% CI: 2.09-4.80). CONCLUSION: The management of the increasing number of patients with PA and its associated burden of cardiovascular disease is likely to place increasing pressure on health systems. Early detection of PA is essential to reduce the associated burden, especially in areas where the assessment of PA has not received sufficient attention.


Assuntos
Doenças Cardiovasculares , Saúde Global , Hiperaldosteronismo , Humanos , Hiperaldosteronismo/epidemiologia , Hiperaldosteronismo/complicações , Prevalência , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Medição de Risco/métodos , Fatores de Risco de Doenças Cardíacas
14.
BMC Surg ; 24(1): 242, 2024 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-39182043

RESUMO

OBJECTIVE: This study aimed to assess the efficacy and safety of bilateral superselective adrenal arterial embolization (SAAE) in patients with bilateral idiopathic hyperaldosteronism (IHA), a subtype of PA. METHODS: Ninety-eight patients with bilateral IHA underwent bilateral SAAE between August 2022 and August 2023. Sixty-eight patients were followed up for up to 12 months. The study outcomes were evaluated using the criteria provided by the Primary Aldosteronism Surgical Outcome (PASO) guidelines. RESULTS: The mean reductions in systolic and diastolic blood pressure were 27.4 ± 21.3 mmHg and 23.1 ± 17.4 mmHg, respectively (p < 0.001). The rates of clinical success and biochemical success after adrenal artery ablation were 63.2% (43/68) and 39.7% (27/68), respectively. Overall, there were significant reductions in daily defined doses (DDD), aldosterone/renin ratio (ARR), and plasma aldosterone levels (p < 0.001). Plasma renin levels increased by a mean value of 10.4 ± 39.0 pg/mL (p = 0.049), and potassium levels increased by 0.40 ± 0.63 mmol/L (p < 0.001). No significant adverse events were reported during SAAE or the follow-up period of up to one year. Additionally, no abnormalities were detected by adrenal 68Ga-Pentixafor PET/CT scans before or after SAAE. CONCLUSION: Bilateral SAAE appears to lead to sustained improvements in blood pressure and biochemical parameters in patients with bilateral PA, with minimal adverse effects. This suggests that bilateral SAAE could serve as an effective alternative approach for treating bilateral IHA, potentially curing this condition.


Assuntos
Glândulas Suprarrenais , Embolização Terapêutica , Hiperaldosteronismo , Humanos , Hiperaldosteronismo/terapia , Hiperaldosteronismo/cirurgia , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/sangue , Feminino , Masculino , Estudos Prospectivos , Pessoa de Meia-Idade , Embolização Terapêutica/métodos , Resultado do Tratamento , Adulto , Glândulas Suprarrenais/irrigação sanguínea , Seguimentos , Aldosterona/sangue
15.
J Hypertens ; 42(10): 1813-1822, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39196692

RESUMO

INTRODUCTION: Primary aldosteronism is the most frequent cause of hypertension although is undetected. The 2016 Endocrine Society guidelines (2016-ESG) recommendations for primary aldosteronism detection are unfulfilled. We aimed to ascertain the prevalence of primary aldosteronism, following the screening criteria endorsed by the 2016-ESG. METHODS: All adult patients tested for primary aldosteronism at an endocrine hypertension unit of a tertiary hospital during 2021-2023 were studied. Primary aldosteronism investigation was performed when at least one reason for its screening based on 2016-ESG was detected. When screening was positive, confirmatory tests were executed. Rates and diagnostic accuracy of the reasons for primary aldosteronism screening were analyzed. RESULTS: Two hundred and sixty-five patients were included. Mean age was 55 ±â€Š14 years, 124 of 265 (46.8%) were women, 24.6% had hypokalemia, and 16% adrenal incidentaloma(s) as indication for screening. Primary aldosteronism was diagnosed in 122 of 265 (46%). The presence of each reason for primary aldosteronism screening increased the probability of primary aldosteronism in 2.2-fold [95% confidence interval (CI): 1.63 to 2.97; P < 0.001]. The most frequent reason for primary aldosteronism screening was a blood pressure at least 150/100 mmHg on three measurements on different days, and had a sensitivity of 95%. Hypertension with spontaneous or diuretic-induced hypokalemia was the most specific reason (87.5%) but was not frequent. Adrenal incidentaloma(s) was not associated with primary aldosteronism diagnosis. CONCLUSION: Primary aldosteronism prevalence is markedly high when the 2016-ESG recommendations are rigorously implemented. The greater the number of indications for primary aldosteronism investigation, the higher its prevalence. Further studies are needed to corroborate this observed primary aldosteronism prevalence.


Assuntos
Hiperaldosteronismo , Hipertensão , Humanos , Hiperaldosteronismo/epidemiologia , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/complicações , Pessoa de Meia-Idade , Feminino , Masculino , Prevalência , Hipertensão/epidemiologia , Adulto , Idoso , Fidelidade a Diretrizes , Guias de Prática Clínica como Assunto
17.
Sci Rep ; 14(1): 19451, 2024 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-39169260

RESUMO

Adrenal gland-induced hypertension results from underlying adrenal gland disorders including Conn's syndrome, Cushing's syndrome, and Pheochromocytoma. These adrenal disorders are a risk for cardiovascular and renal morbidity and mortality. Clinically, treatment for adrenal gland-induced hypertension involves a pharmaceutical or surgical approach. The former presents very significant side effects whereas the latter can be ineffective in cases where the adrenal disorder reoccurs in the remaining contralateral adrenal gland. Due to the limitations of existing treatment methods, minimally invasive treatment options like microwave ablation (MWA) have received significant attention for treating adrenal gland disorders. A precise comprehension of the dielectric properties of human adrenal glands will help to tailor energy delivery for MWA therapy, thus offering the potential to optimise treatments and minimise damage to surrounding tissues. This study reports the ex vivo dielectric properties of human adrenal glands, including the cortex, medulla, capsule, and tumours, based on the data obtained from four patients (diagnosed with Conn's syndrome, Cushing's syndrome, and Pheochromocytoma) who underwent unilateral adrenalectomy at the University Hospital Galway, Ireland. An open-ended coaxial probe measurement technique was used to measure the dielectric properties for a frequency range of 0.5-8.5 GHz. The dielectric properties were fitted using a two-pole Debye model, and a weighted least squares method was employed to optimise the model parameters. Moreover, the dielectric properties of adrenal tissues and tumours were compared across frequencies commonly used in MWA, including 915 MHz, 2.45 GHz, and 5.8 GHz. The study found that the dielectric properties of adrenal tumours were influenced by the presence of lipid-rich adenomas, and the dielectric properties of Cushing's syndrome tumour were lowest in comparison to the tumours in patients diagnosed with Conn's syndrome and Pheochromocytoma. Furthermore, a notable difference was observed in the dielectric properties of the medulla and cortex among patients diagnosed with Conn's syndrome, Cushing's syndrome, and Pheochromocytoma. These findings have significant implications for the diagnosis and treatment of adrenal tumours, including the optimisation of MWA therapy for precise ablation of adrenal masses.


Assuntos
Neoplasias das Glândulas Suprarrenais , Glândulas Suprarrenais , Síndrome de Cushing , Hipertensão , Micro-Ondas , Feocromocitoma , Humanos , Neoplasias das Glândulas Suprarrenais/cirurgia , Micro-Ondas/uso terapêutico , Glândulas Suprarrenais/cirurgia , Glândulas Suprarrenais/patologia , Hipertensão/terapia , Feocromocitoma/cirurgia , Síndrome de Cushing/cirurgia , Técnicas de Ablação/métodos , Feminino , Masculino , Hiperaldosteronismo/cirurgia , Hiperaldosteronismo/terapia , Adrenalectomia , Pessoa de Meia-Idade
18.
Nefrologia (Engl Ed) ; 44(4): 496-502, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39107222

RESUMO

Classically, aldosterone actions are associated with the stability of the effective circulating volume and with blood pressure control, while parathormone actions are linked to bone mineral metabolism, calcium, and phosphate homeostasis. Nevertheless, the relationship between these two hormonal axes surpasses these areas. A bidirectional interrelation between calcium-phosphorus metabolism and blood pressure control can lead to alterations in both. This can have significant implications for the evolution and treatment of patients. To illustrate this relationship, we present two clinical cases that demonstrate the pathophysiology involved.).


Assuntos
Hiperaldosteronismo , Humanos , Hiperaldosteronismo/complicações , Hiperaldosteronismo/etiologia , Masculino , Pessoa de Meia-Idade , Feminino , Hiperparatireoidismo/complicações , Cálcio/sangue , Hormônio Paratireóideo/sangue , Aldosterona/sangue
19.
Endocrinol Diabetes Metab ; 7(5): e70001, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39207956

RESUMO

BACKGROUND: Adrenal vein sampling (AVS), integral to identifying surgically remediable unilateral primary aldosteronism (PA), is technically challenging and subject to fluctuations in cortisol and aldosterone secretion. Intra-procedural adrenocorticotropic hormone (ACTH), conventionally administered as a 250-µg bolus and/or 50 µg per hour infusion, increases cortisol and aldosterone secretion and can improve AVS success, but may cause discordant lateralisation compared to unstimulated AVS. AIMS: To assess if AVS performed with ultra-low dose ACTH infusion causes discordant lateralisation. METHODS: Here, we describe our preliminary experience using an ultra-low dose ACTH infusion AVS protocol. We retrospectively reviewed the results of consecutive AVS procedures (n = 37) performed with and without ultra-low dose ACTH (1-µg bolus followed by 1.25 µg per hour infusion). RESULTS: Bilateral AV cannulation was successful in 70% of procedures pre-ACTH and 89% post-ACTH (p < 0.01). Sixty-nine percent of studies lateralised pre-ACTH and 55% post-ACTH, improving to 79% when both groups were combined. Lateralisation was discordant in 11 cases, including eight in which lateralisation was present only on basal sampling, and three in which lateralisation occurred only with ACTH stimulation. DISCUSSION: Overall, the decrease in lateralisation rates with ACTH was higher than previously reported for some protocols utilising conventional doses of ACTH. Our results suggest that AVS performed with ultra-low dose ACTH can cause discordant lateralisation similar to AVS performed with conventional doses of ACTH. CONCLUSION: Prospective studies directly comparing low and conventional dose ACTH AVS protocols and long-term patient outcomes are needed to help define the optimal ACTH dose for accurate PA subtyping.


Assuntos
Glândulas Suprarrenais , Hormônio Adrenocorticotrópico , Hiperaldosteronismo , Humanos , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/sangue , Hormônio Adrenocorticotrópico/administração & dosagem , Glândulas Suprarrenais/irrigação sanguínea , Pessoa de Meia-Idade , Feminino , Masculino , Estudos Retrospectivos , Adulto , Infusões Intravenosas , Veias , Aldosterona/sangue , Aldosterona/administração & dosagem , Idoso , Hidrocortisona/administração & dosagem , Hidrocortisona/sangue
20.
J Postgrad Med ; 70(3): 166-168, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39132858

RESUMO

ABSTRACT: Medullary nephrocalcinosis is an uncommon manifestation of primary hyperaldosteronism (PHA) and the exact etiology of this association is still debated. Here we report three cases of PHA with medullary nephrocalcinosis and how medullary nephrocalcinosis in one patient led to misdiagnosis as renal tubular acidosis (RTA). Although PHA and RTA can share overlapping symptoms, careful evaluation of clinical presentation, biochemical tests, and imaging studies are essential to differentiate between the two conditions and ensure appropriate management. Also, awareness of this uncommon manifestation of PHA is essential to avoid misdiagnosis as tubulopathy, as this may delay the treatment.


Assuntos
Hiperaldosteronismo , Nefrocalcinose , Humanos , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/complicações , Masculino , Nefrocalcinose/etiologia , Nefrocalcinose/diagnóstico , Feminino , Adulto , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/complicações , Diagnóstico Diferencial , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
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