The Study Of Genetic Mutations Of Epithelial Na+Channel Of Liddle Syndrome And The Clinical Characteristics And Follow-up Study Of100Patients With Primary Aldosteronism

Primary aldosteronims is the most common reason of secondary hypertension. There are somen other disease of hypertension with hypokalemia such as renal vascular hypertension and Liddle syndrome. Getting the exact medical history, laboratory tests and iconography tests are the indispensible conditions of clarifying a diagnosis. The level of aldosterone is normal or low is the most obvious differentiate from primary aldosteronism and Liddle syndrome. There is no occupying or only nonfunction occupying on the adrenal gland of the patients of Liddle syndrome, who were always diagnosed of essential hypertension. They have little reaction to usual antihypertensive medicines, and it was more easier to have complicating disease of hypertension and hypokalemia. There are likely patients of stroke in their families.Liddle's syndrome is an autosomal inheritable disorder caused by mutations of the epithelial sodium channel (ENaC). Its typical clinical features are hypertension, hypokalemia, metabolic alkalosis, suppressed secretion of aldosterone, rennin. The mutations of Liddle's syndrome are either removing or frameshifting or altering the DNA sequence corresponding to a conserved PY motif found in the C-terminal ends of β or γ subunit of the ENaC. The incidence of Liddle's syndrome is unknown up to now because of lacking of screening genotype of hypertension patients with unclear reasons.286young patients with unlear reasons of hypertention were admitted in the study. They were evaluated with history, physical examination, laboratary tests, and adrenal CT tests to exclude other familiar secondary hypertension reasons.5probands were found with mutations in the β ofy subunits of ENaC, which are P614L P616S, and X of SCNN1B gene and E571X, A583D of SCNN1G gene.5kidreds were investigated and16Liddle's syndrome patients were found. Fourteen patients were treated with restricting salt and amiloride or triamterene and recovered to normaltension and normal serum potassium. One of these patients has normal serum potassium before treatment, which indicates hypokalimia is not the essential part of diagnosing Liddle syndrome. The incidence of Liddle syndrome reported in this article1.72%probablely is lower than the reality.Primary aldosteronism is the most common reason of secondary hypertension, which characterized of hypertension, hypokalemia, metallic alkalosis, overproduction of aldosterone and suppressed renin level. There has been standard procedure of diagnosing primary aldosteronism, which includes screening tests, confirmatory tests and subtype differentiation. The golden standard of diagnosing primary aldosteronism is adrenal venous sampling (AVS) since adrenal CTscan lack sensitivith and specificity. AVS can also be the evidence in differentiating between aldosterone-producing edemas (APAs) and bilateral adrenal hyperplasias (BAHs), and guiding the way of treatment. The goal of treatment is to prevent the morbidity and mortality associated with hypertension, hypokalemia and cardiovascular damage. The aetiology of PA in each patients helps to determine the appropriate treatment. Both medical and surgical treatments were reported to have positive impact on not only clinical but also biochemical parament and quality of life of PA patients. Surgical treatmengts include unilateral adreanalectomy and laparoscopic adreanalectomy. Spironolactone and eplerenone are the most widely used medicines of medical pharmacotrearapy. There are some ways of ablations used in clinic which include radiofrequency ablation, cryoablation, and chemical ablation.In conclusion, these findings expand our understanding of the etiology, the molecular base, the diagnosis and the treatment of PA and Liddle syndrome. Molecular analysis of the disease causing gene enable a precise diagnosis of Liddle syndrome and can be used for the diagnosis of the at-risk relatives, and provide opportunities for the development of therapies specifically tailored to this underlying abnormality.Early diagnose and early treatment are important to these people since they are proned to have heart and vascular damages, which may lead to better blood pressure control and qulity of life.