Ham Yeji, Mack Heather, Colville Deb, Harraka Philip, Savige Judy
Department of Medicine, University of Melbourne, Melbourne Health and Northern Health, Royal Melbourne Hospital, Parkville, VIC, Australia.
Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.
Clin Kidney J. 2021 Feb 5;14(9):2023-2028. doi: 10.1093/ckj/sfab034. eCollection 2021 Sep.
Gitelman syndrome is a rare inherited renal tubular disorder with features that resemble thiazide use, including a hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria and a low or normal blood pressure, hyperreninemia and hyperaldosteronism. Treatment is primarily correction of the potassium and magnesium levels. The diagnosis is confirmed with genetic testing but Gitelman syndrome is often not suspected. However, the association with ectopic calcification in the retina, blood vessels and chondrocalcinosis in the joints is a useful pointer to this diagnosis. Bilateral symmetrical whitish deposits of calcium pyrophosphate are visible superotemporally on ophthalmoscopy and retinal photography but are actually located beneath the retina in the sclerochoroid. Optical coherence tomography is even more sensitive for their detection. These deposits increase in size with time, but the rate of progression slows with long-term correction of the hypomagnesemia. Calcification may be complicated by atrophy of the overlying retina and visual loss. The deposits often correlate with ectopic calcification in the aorta and coronary and cerebral vessels. Chondrocalcinosis occurs in the large joints such as the knees. Ectopic calcification in Gitelman syndrome indicates the need for more aggressive management of Mg levels. Calcification is much less common in Bartter syndrome, which itself is rarer and associated less often with hypomagnesemia.
吉特曼综合征是一种罕见的遗传性肾小管疾病，其特征类似于使用噻嗪类药物后的表现，包括低钾性代谢性碱中毒、低镁血症、低钙尿症以及血压低或正常、高肾素血症和高醛固酮血症。治疗主要是纠正钾和镁水平。通过基因检测可确诊，但吉特曼综合征常常未被怀疑。然而，其与视网膜、血管的异位钙化以及关节软骨钙质沉着症的关联是该诊断的有用线索。在检眼镜检查和视网膜摄影中，颞上侧可见双侧对称的焦磷酸钙白色沉积物，但实际上它们位于视网膜下方的巩膜脉络膜中。光学相干断层扫描对其检测更为敏感。这些沉积物会随时间增大，但随着低镁血症的长期纠正，进展速度会减慢。钙化可能会因上方视网膜萎缩和视力丧失而复杂化。这些沉积物通常与主动脉、冠状动脉和脑血管的异位钙化相关。软骨钙质沉着症发生在膝关节等大关节。吉特曼综合征中的异位钙化表明需要更积极地管理镁水平。钙化在巴特综合征中则少见得多，巴特综合征本身更罕见，且较少与低镁血症相关。
