Diagnosis, treatment and progress of primary aldosteronism in China / 中华内分泌代谢杂志

Primary aldosteronism is an important cause of secondary hypertension with the prevalence of 10%-20%in hypertensive patients. Compared with essential hypertension, primary aldosteronism patients have more cardiovascular and cerebrovascular complications. In this article, we will make a discussion on the development and current situation of primary aldosteronism by means of its prevalence, case detection, case confirmation, subtype classification, treatment and basic research.

CTNNB1 Mutation in Aldosterone Producing Adenoma

Discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas (APAs) with distinct clinical presentations and pathological features. Catenin β1 (CTNNB1) mutation in APAs has been recently described and discussed in the literature. However, significant knowledge gaps still remain regarding the prevalence, clinical characteristics, pathophysiology, and outcomes in APA patients harboring CTNNB1 mutations. Aberrant activation of the Wnt/β-catenin signaling pathway will further modulate tumorigenesis. We also discuss the recent knowledge of CTNNB1 mutation in adrenal adenomas.

The association between KCNJ5 gene polymorphism and primary hyperaldosteronism / 中华内分泌代谢杂志

Objective To investigate the association between KCNJ5 gene polymorphism and primary hyperaldosteronism(PA).Methods A total of 248 PA patients and 816 essential hypertension (EH) patients were enrolled in this study,TaqMan assay was used to detect the rs1221497 polymorphism of KCNJ5 gene.Results The genotypes of rs1221497 were in Hardy-Weinberg equilibrium in both PA group and EH group,the genotype frequencies ofGG,GC,CC were 208,39,1 in PA group and 631,177,8 in EH group respectively,the allele frequencies in the two groups were 455,41 and 1 439,193 respectively.The frequencies of GG genotype and G allele in PA group were significantly higher than those in EH group.Logistic regression showed that GG genotype was closely associated with PA after adjusting age.Conclusions GG genotype and G allele may contribute to the occurrence of PA.

Association of KCNJ5 gene missense mutations with aldosterone-producing adenoma and primary hyperaldosteronism / 中华内分泌代谢杂志

Objective This study is about to detect the KCNJ5 gene variations in aldosterone-producing adenoma (APA) with primary hyperaldosteronism (PA),and to investigate the association of the KCNJ5 gene missense mutations with APA and PA.Methods A total of 46 APA tumors and their clinical characteristics were collected from Hypertension Center of the People's Hospital of Xinjiang Uygur Autonomous Region,and all the tumors were confirmed by pathology.All the samples of the coding region segments of KCNJ5 were detected by PCR and direct DNA sequencing to compare the different missense mutations in the tumor cells and peripheral blood cells and to analyze the association between the genotype and phenotype.Results Three missense mutations were found in 46 patients with APA:c.451G ＞ C/A (p.G151R) (5/46),c.503T ＞ G (p.L168R) (4/46),c.830T ＞ A (p.S209T) (12/46).S209T,as an unreported somatic mutation was observed.There were no missense mutations detected in the peripheral blood.Sex,age,systolic blood pressure,diastolic blood pressure,duration of hypertension,plasma potassium,urine potassium,aldosterone,plasma renin activity,aldosterone,and plasma renin activity ratio,as well as the rate of positive family history were compared between the mutants and wild-types.Systolic blood pressure and plasma potassium level among G151 R,L168R,and S209T had statistical differences.Systolic blood pressure in G151R was significantly higher than the other two groups,while the plasma potassium level was significantly lower than the other groups.Conclusions Three missense mutations were found in 46 patients with APA.The subjects with mutations had more serious condition than those without mutations after comparing their clinical phenotype.Besides,other different subtypes may exist in PA.

Genetic aspects in primary aldosteronism / 中华内分泌代谢杂志

Primary aldosteronism (PA) is one of the common forms of secondary hypertension.Compared with essential hypertension patients,PA patients have a higher incidence of target organ damage and cardiovascular events.Elucidation of the underlying molecular mechanisms will likely aid the development of targeted treatments and improve prognosis for PA patients.At present,studies have elucidated the pathogenesis of familial hyperaldosteronism type Ⅰ,while the study of the pathogenesis of other subtypes is still in progressing.This review introduces the current studies on the molecular genetics of primary aldosteronism.

The advances of research on adrenal diseases from 2010 to 2012 / 中华内分泌代谢杂志

This article reviews the major advances of basal and clinical research on the adrenal diseases at home and abroad from 2010 to 2012.There are many advances including the diagnostic value of steroidogenic factor-1 in adrenal tumors,the pathogenesis and new diagnostic methods of aldosterone-producing adenoma,the treatment for severe ACTH-dependent Cushing's syndrome,approach to the patient with an adrenal incidentaloma and subclinical hypercortisolism,screening test for subclinical hypercortisolism in the patients with diabetes or osteoporosis,the characterization of macronodular adrenocortical hyperplasia of the zona reticularis,as well as genetic testing for pheochromocytoma and paragangliomas,etc.