ABSTRACT
Objective To analyze the clinical characteristics and provide the experiences in diagnosis and treatment of 3 cases of Gitelman syndrome (GitS).Methods Three patients diagnosed as GitS were selected as the objects in Tangshan gongren Hospital from Aug.2010 to Jan.2017.Their clinical data were retrospectively analyzed and combined with the related literatures,and the clinical characteristics and treatment experiences of the disease were discussed.Results Of the 3 patients,2 were teenager onset and another one was adult onset.The blood pressure of the 3 patients was normal,and the clinical features were as paroxysmal weakness,tetany,polyuria and nocturia increased.Laboratory tests revealed low potassium,low sodium,low chlorine,hypomagnesemia,occasionally hypocalcemia,high urinary potassium,metabolic alkalosis,urine Ca/Cr ≤ 0.2,plasma rennin activity increased significantly and plasma aldosterone was normal.Being eliminated symptoms and phenomena were the potassium intake inadequate,loss of potassium in digestive tract,taking potassium excretion drugs,primary aldosteronism and Cushing syndrome.etc.Patients got symptoms relief and serum potassium level rose to near normal level after receiving the combined potassium and magnesium supplement.Conclusions The clinical characteristics of GitS manifest as fatigue,tetany,normal blood pressure,hypokalemia,hypomagnesemia,metabolic alkalosis,plasma rennin activity increases significantly and plasma aldosterone rises or normal.Treatment with combined potassium and magnesium supplement may lead to a good prognosis,but hypomagnesemia is harder to correct.Kidney damage can be avoided by early diagnosis and treatment.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the relationship of angiotensin I-converting enzyme (ACE) gene polymorphism to diabetic retinopathy and diabetes myocardial infarction.</p><p><b>METHODS</b>ACE insertion/deletion(I/D) polymorphism was determined by PCR.</p><p><b>RESULTS</b>No evidence showed that ACE gene was associated with diabetic retinopathy. By comparison of the type 2 diabetes patients with myocardial infarction versus those without-myocardial infarction, it was found that the frequencies of homozygote DD (41.2% versus 33.2%) and of allele D (64.7% versus 55.0%) increased remarkably; the difference was statistically significant (P<0.05).</p><p><b>CONCLUSION</b>Allele D(RR=1.50) and genotype DD(RR=1.33) seemed to be a genetic risk factor for type 2 diabetes myocardial infarction.</p>