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A Cases Of Bartter Syndrome With Clinical Analysis

Posted on:2019-11-29Degree:MasterType:Thesis
Country:ChinaCandidate:X HuFull Text:PDF
GTID:2394330566469214Subject:Endocrine
Abstract/Summary:PDF Full Text Request
Objective:In view of the diagnosis and treatment of one case of Bartter syndrome in our department,the clinical manifestation,laboratory examination and treatment of this disease were summarized in combination with the review of related literature in order to reduce misdiagnosis and missed diagnosis in the course of clinical diagnosis and treatment in the future.So,we can achieve early detection,early diagnosis and early treatment.Methods:The data of the case of Bartter syndrome admitted in April 2016 in the Endocrinology Department of affiliated Hospital of Zunyi Medical College were analyzed,and the basic characteristics,clinical diagnosis,differential diagnosis,diagnosis and treatment of the disease were summarized with the reference of related literature.Results:Bartter Syndrome is a group of rare recessive hereditary renal tubular diseases,and its clinical symptoms are mainly polyuria,fatigue,convulsion,growth retardation,etc.Its clinical features include hypokalemia,high urinary potassium,metabolic alkalosis,and elevated plasma renin activity and aldosterone concentrations with normal blood pressure,glomerular hyperplasia and hypertrophy[1,2],and so on.The incidence of this disease is low,and it can be the earliest in the fetal period,and it is more common in childhood.The incidence rates are generally higher in women than that in men[3,4].This patient had a long and repeated attack of lower extremity fatigue,muscle soreness and polyuria.Laboratory examination showed severe hypokalemia,increased urinary potassium,increased urine volume,acute elevation of creatine kinase,and metabolic alkalosis.Plasma renin activity,angiotensin increased but blood pressure was normal,repeated potassium supplementation did not improve the state of the disease obviously and the effect was poor.After ruling out renal tubular acidosis,primary aldosteronism and other diseases,Bartter Syndrome was diagnosed by considering the onset age and course of disease.Conclusion:Potassium supplementation combined with low-dose prostaglandin synthase inhibitor treatment,the patient’s blood potassium returned to normal in a short period of time,and creatine kinase decreased rapidly.Symptoms such as weakness of lower extremities muscle soreness and polyuria were obviously improved.The typical clinical manifestations and significant therapeutic effects further confirm the diagnosis of Bartter Syndrome.
Keywords/Search Tags:Hypokalemia, Bart syndrome, Metabolic alkalosis, Gene analysis
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