Mathen Stephy, Venning Michael, Gillham Joanna
Department of Obstetrics and Gynaecology, Mid Cheshire Hospitals NHS Foundation Trust, Crewe, UK.
BMJ Case Rep. 2013 Jan 25;2013:bcr2012007927. doi: 10.1136/bcr-2012-007927.
Gitelman's syndrome is a congenital renal tubular defect which affects the apical membrane of the distal convoluted tubule of the renal system. The syndrome is characterised by hypokalaemia, hypomagnesaemia, metabolic alkalosis and hypocalcuria. There are only a few cases describing the impact of Gitelman's syndrome on pregnancy and the foetus. Although most pregnancies have favourable outcomes, fetal demise has been reported in the third trimester. We report the successful outcome of pregnancy in a patient with Gitelman's syndrome who continued on amiloride in pregnancy to optimise potassium and magnesium levels and review the literature for pregnancy outcomes of this condition.
吉特曼综合征是一种先天性肾小管缺陷，会影响肾脏系统远曲小管的顶端膜。该综合征的特征为低钾血症、低镁血症、代谢性碱中毒和低尿钙。仅有少数病例描述了吉特曼综合征对妊娠及胎儿的影响。尽管大多数妊娠结局良好，但有报道称在妊娠晚期出现了胎儿死亡。我们报告了一名患有吉特曼综合征的患者成功妊娠的病例，该患者在孕期持续服用阿米洛利以优化钾和镁的水平，并回顾了关于这种情况妊娠结局的文献。
