Galešić Krešimir, Horvatić Ivica, Ilić Mario, Ćuk Martin, Crnogorac Matija, Ljubanović Danica Galešić
Lijec Vjesn. 2016 Sep-Oct;138(9-10):260-5.
In this article six patients with hypokalemic metabolic alkalosis, classified as Bartter or Gitelman syndrome are presented. Both syndromes result from different gene mutation inducing impaired function of the transporters involved in sodium, chloride and potassium reapsorption in thick ascending limb of the loop of Henle and distal convoluted tubules. These syndromes typically present with hypokalemia, metabolic alkalosis, hyperreninemic hyperaldosteronism without hypertension, polyuria and muscle weakness. Other clinical characteristics may vary considerably, depending on the gene expression. Correct diagnosis is only possible using expensive and not-routinely available genetic testing. Routine laboratory tests, especially those considering serum and urine electrolytes, can help in recognizing these syndromes and therefore in timely beginning of treatment. The most important distinctive laboratory findings are serum magnesium concentration and urine calcium excretion. In Bartter syndrome typically there is hypercalciuria with or without hypomagnesemia, while in Gitelman syndrome typical findings are hypocalciuria and hypomagnesemia. Recognizing and treating these patients is important due to possible increased morbidity and mortality induced by severe electrolyte imbalance.
本文介绍了6例被归类为巴特综合征或吉特林综合征的低钾性代谢性碱中毒患者。这两种综合征均由不同基因突变导致亨氏袢厚升支和远曲小管中参与钠、氯和钾重吸收的转运蛋白功能受损引起。这些综合征通常表现为低钾血症、代谢性碱中毒、高肾素性醛固酮增多症但无高血压、多尿和肌肉无力。其他临床特征可能因基因表达而异。只有使用昂贵且非常规可用的基因检测才能做出正确诊断。常规实验室检查，尤其是那些考虑血清和尿液电解质的检查，有助于识别这些综合征，从而及时开始治疗。最重要的鉴别性实验室检查结果是血清镁浓度和尿钙排泄量。在巴特综合征中，典型表现为有或无低镁血症的高钙尿症，而在吉特林综合征中，典型表现为低钙尿症和低镁血症。由于严重电解质失衡可能导致发病率和死亡率增加，识别和治疗这些患者很重要。
