Karagiannidis Artemios G, Alexandrou Maria-Eleni, Lioulios George, Stangou Maria, Sarafidis Pantelis A, Papagianni Aikaterini
Department of Nephrology, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Clin Nephrol Case Stud. 2023 Feb 16;11:22-28. doi: 10.5414/CNCS110977. eCollection 2023.
We report a case of a 58-year-old woman presenting with symptoms of oliguria, fatigue, anorexia, constipation, hypovolemic signs, and laboratory tests showing severe hypokalemia (1.7 mEq/L), hyponatremia (120 mEq/L), high serum creatinine (SCr, 6.46 mg/dL) and urea (352 mg/dL). The patient had previously been diagnosed with chronic kidney disease (CKD), with SCr up to 2.58 mg/dL 1 year prior, and had in all her previous laboratory tests shown hypokalemia, which was treated with conservative measures and eplerenone despite low-normal blood pressure and normal heart function. A set of coordinated measures were applied to restore the potassium deficit, revert hypovolemic hyponatremia, and support renal function (including 4 dialysis sessions). In addition, a careful diagnostic approach revealed inappropriately high urine sodium and potassium losses, hypocalciuria, and hyperreninemic hyperaldosteronism leading to the diagnosis of Gitelman syndrome and hypokalemia-associated chronic tubulointerstitial nephropathy. Importantly, compliance with a simple set of instructions on high potassium and liberal sodium diet enabled the patient not only to remain euvolemic, free of symptoms, and with normal electrolytes, but also to recover a significant part of renal function and stabilize at an earlier CKD stage. Gitelman syndrome is a rare disorder that can be easily diagnosed and treated following simple measures; its early diagnosis is necessary to avoid life-threatening complications.
我们报告一例58岁女性患者，其出现少尿、疲劳、厌食、便秘、低血容量体征，实验室检查显示严重低钾血症（1.7 mEq/L）、低钠血症（120 mEq/L）、高血清肌酐（SCr，6.46 mg/dL）和尿素（352 mg/dL）。该患者此前被诊断为慢性肾脏病（CKD），1年前SCr高达2.58 mg/dL，既往所有实验室检查均显示低钾血症，尽管血压略低于正常范围且心功能正常，但仍采取保守措施并用依普利酮进行治疗。我们采取了一系列协调措施来纠正钾缺乏、逆转低血容量性低钠血症并支持肾功能（包括进行4次透析）。此外，经过仔细的诊断方法发现存在尿钠和钾丢失异常、低钙尿症以及高肾素性醛固酮增多症，从而诊断为吉特林综合征和低钾血症相关的慢性肾小管间质性肾病。重要的是，患者遵循了一套关于高钾和丰富钠饮食的简单指导，不仅能够维持血容量正常、无症状且电解质正常，还能恢复部分肾功能并在更早的CKD阶段实现病情稳定。吉特林综合征是一种罕见疾病，采取简单措施即可轻松诊断和治疗；早期诊断对于避免危及生命的并发症至关重要。
