Otto Marie-Pierre, Cheminel Valérie, Crevon Lionel, Dubourg Laurence, Hadj-Aissa Aoumeur, Mounier Chantal, Prevosto Jean-Michel
Laboratoire de biologie, Service de médecine interne, Hôpital d'instruction des armées Desgenettes, Lyon.
Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):459-64. doi: 10.1684/abc.2011.0597.
We report the case of an asymptomatic patient presenting a severe chronic renal hypokalaemia. Once being sure of no diuretics use, two hypothesis can be mentioned for a normotensive patient presenting an hypokalaemia associated with a metabolic alcalosis: Bartter syndrome or Gitelman syndrome. The highlighting of low magnesaemia and hypocalciuria strongly concentrates the diagnosis on Gitelman syndrome. First, this has been strengthened by the results of renal function tests and later it has confirmed by molecular diagnosis with the identification of a known homozygous mutation on SLC12A3 gene. In the patient family, the same chromosomal abnormality has been found in the young sister. For these two patients the treatment ordered is an antikaliuretic diuretic, magnesium and potassium supplements. This case shows the difficulty to diagnose Gitelman syndrome: it is frequently mistaken for Bartter syndrome. The main differences between these two syndromes are magnesaemia and calciuria. Furthemore , patients with Gitelman syndrome are often asymptomatic, this explains why prevalence of this illness is probably underestimated.
我们报告了一例无症状患者出现严重慢性肾性低钾血症的病例。在确定未使用利尿剂后，对于一名血压正常且伴有代谢性碱中毒的低钾血症患者，可提出两种假设：巴特综合征或吉特曼综合征。低镁血症和低钙尿症的发现强烈提示诊断为吉特曼综合征。首先，肾功能检查结果强化了这一诊断，随后通过分子诊断在SLC12A3基因上鉴定出已知的纯合突变得以证实。在患者家族中，其妹妹也发现了相同的染色体异常。对于这两名患者，所开的治疗药物是抗利尿利尿剂、镁和钾补充剂。该病例显示了诊断吉特曼综合征的困难：它常被误诊为巴特综合征。这两种综合征的主要区别在于镁血症和尿钙。此外，吉特曼综合征患者通常无症状，这就解释了为什么这种疾病的患病率可能被低估。
