Iqbal Zahra, Mead Paul, Sayer John A
Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Renal Unit, Cumberland Infirmary, Carlisle, UK.
F1000Res. 2016 May 12;5:875. doi: 10.12688/f1000research.8732.1. eCollection 2016.
Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lead to chondrocalcinosis, which often affects knees but can affect other joints. Here we present a case of Gitelman syndrome complicated by cervical chondrocalcinosis leading to neck pain and numbness of the fingers. Treatments directed at correcting both hypokalaemia and hypomagnesaemia were initiated and allowed conservative non-surgical management of the neck pain. Recognition of chondrocalcinosis is important and treatments must be individualised to correct the underlying hypomagnesaemia.
吉特曼综合征是一种遗传性肾小管病，可导致低钾性代谢性碱中毒，并伴有低镁血症和低钙尿症。大多数病例是由于SLC12A3基因突变所致，该基因编码远端曲小管顶端的噻嗪类敏感共转运体。吉特曼综合征的肌肉骨骼影响很常见，包括肌肉无力、手足搐搦和痉挛。慢性低镁血症可导致软骨钙质沉着症，常累及膝关节，但也可影响其他关节。在此，我们报告一例吉特曼综合征并发颈椎软骨钙质沉着症，导致颈部疼痛和手指麻木的病例。针对低钾血症和低镁血症的纠正治疗开始实施，并允许对颈部疼痛进行保守的非手术治疗。认识软骨钙质沉着症很重要，治疗必须个体化以纠正潜在的低镁血症。
