Stimson Laura, Reynolds Tim
Burton Hospitals NHS Foundation Trust, Burton on Trent, UK.
Clinical Chemistry, Queen's Hospital, Burton on Trent, UK.
BMJ Case Rep. 2018 Jun 5;2018:bcr-2017-223680. doi: 10.1136/bcr-2017-223680.
Doctors will often see patients with chronic hypokalaemia, frequently this is secondary to gastrointestinal losses, diuretics or renal disease. However, in this case report we review a rarer cause of chronic hypokalaemia-Gitelman syndrome (GS).GS is an uncommon genetic disorder which causes primary renal tubular hypokalaemic metabolic alkalosis with secondary hypomagnesaemia and hypocalciuria. Although rare, it is important to remember GS when considering differential diagnoses for chronic hypokalaemia. We report the case of a woman who presented to the ophthalmology department with sclerochoroidal calcification. An ophthalmologist was reviewing the medical literature, which prompted them to investigate for GS. A diagnosis was formed at that time based on the blood and urine chemistry results. However, later we were able to offer the patient genetic testing, which confirmed our provisional diagnosis.
医生经常会见到患有慢性低钾血症的患者,这种情况通常继发于胃肠道丢失、利尿剂使用或肾脏疾病。然而,在本病例报告中,我们回顾了一种较为罕见的慢性低钾血症病因——吉特曼综合征(GS)。GS是一种罕见的遗传性疾病,可导致原发性肾小管低钾性代谢性碱中毒,并伴有继发性低镁血症和低钙尿症。尽管罕见,但在考虑慢性低钾血症的鉴别诊断时,记住GS很重要。我们报告了一例因巩膜脉络膜钙化就诊于眼科的女性病例。一位眼科医生查阅医学文献后,促使他们对GS进行调查。当时根据血液和尿液化学检查结果做出了诊断。然而,后来我们能够为患者提供基因检测,结果证实了我们的初步诊断。