Rušavý Z, Hudec A, Karbanová J, Korečko V, Janů R, Kališ V
Gynekologicko-porodnická klinika LF a FN, Plzen, prednosta doc. MUDr. Z. Novotný, CSc.
Ceska Gynekol. 2012 Oct;77(5):421-3.
Gitelman syndrom is a rare congenital tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. We report a case of a 32-year-old patient admitted for asymptomatic hypokalemia and hypomagnesemia in the 30th week of gestation. A diagnosis of Gitelman syndrom was made and intravenous administration of potassium chloride in high doses combined with spironolactone was started. Despite intensive potassium supplementation (8 g/day), the serum potassium levels remained at the lower limit of normality throughout the pregnancy. The patient delivered a healthy female 2670 g/48 cm after labor induction in the 39th week of gestation. A summary of 22 so far published cases of Gitelman syndrome in pregnancy is presented. The analysis of published case studies suggests a need for ion supplementation, reduction of urinary potassium wasting, monitoring of fetal well-being and amniotic fluid levels. Pregnancy has a very favorable perinatal prognosis despite critical serum levels of potassium and magnesium throughout the pregnancy.
吉特曼综合征是一种罕见的先天性肾小管疾病，其特征为低钾血症、低镁血症、代谢性碱中毒和低钙尿症。我们报告一例32岁患者，在妊娠第30周因无症状低钾血症和低镁血症入院。诊断为吉特曼综合征，并开始静脉高剂量输注氯化钾联合螺内酯治疗。尽管大量补钾（8克/天），但整个孕期血清钾水平一直维持在正常下限。患者在妊娠第39周引产，分娩出一名健康女婴，体重2670克，身长48厘米。本文总结了迄今为止已发表的22例妊娠合并吉特曼综合征病例。对已发表病例研究的分析表明，需要补充离子、减少尿钾流失、监测胎儿健康和羊水水平。尽管整个孕期血清钾和镁水平危急，但妊娠的围产期预后非常良好。
