Mustafa Qurat Ul Ain, Haroon Zujaja Hina, Ijaz Aamir, Sajid Muhammad Tanveer, Ayyub Muhammad
Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi.
J Coll Physicians Surg Pak. 2017 Mar;27(3):S30-S32.
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. Laboratory workup revealed serum potassium, 2.7 mmol/L, serum magnesium, 0.69 mmol/L and metabolic alkalosis. Urine analysis showed surprising results, i.e. urine potassium 49.5 mmol/L, urine spot potassium creatinine ratio 5.1, chloride 93 mmol/L and low 24 hours urinary calcium excretion (1.19 mmol/day). Plasma active renin concentration was 135 mlU/L while plasma aldosterone was 1090 pmol/L, depicting secondary hyperreninemic hyperaldosteronism. Based on typical findings, a diagnosis of GS was made. Patient responded well to potassium and magnesium supplementation, 100 mg daily tablet aldactone® and liberal salt intake. The aim of this report is to revisit clinical approach to persistent hypokalemia with special emphasis to remember rare entities like GS in the differential diagnosis.
吉特曼综合征（GS）是最常见的遗传性肾性失盐性肾小管间质疾病。其病程多变，但通常为无症状的良性过程。我们报告一例罕见的吉特曼综合征病例，该病例在临床上一直是个谜。一名22岁男性患者出现严重的发作性全身肢体疲劳，伴有下沉感、心悸、嗜盐、口渴增加和尿频，影响其日常活动。实验室检查显示血清钾2.7 mmol/L，血清镁0.69 mmol/L，代谢性碱中毒。尿液分析结果令人惊讶，即尿钾49.5 mmol/L，尿点钾肌酐比值5.1，氯93 mmol/L，24小时尿钙排泄量低（1.19 mmol/天）。血浆活性肾素浓度为135 mlU/L，而血浆醛固酮为1090 pmol/L，提示继发性高肾素血症性醛固酮增多症。根据典型表现，诊断为吉特曼综合征。患者对补充钾和镁、每日服用100 mg安体舒通片®以及大量摄入盐分反应良好。本报告的目的是重新审视持续性低钾血症的临床处理方法，特别强调在鉴别诊断中要记住像吉特曼综合征这样的罕见疾病。
