A case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease.

IF 1 Q4 UROLOGY & NEPHROLOGY
CEN Case Reports Pub Date : 2024-10-01 Epub Date: 2024-02-02 DOI:10.1007/s13730-024-00851-9
Atsushi Kondo, Kunihiko Yoshiya, Nana Sakakibara, China Nagano, Tomoko Horinouchi, Kandai Nozu
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引用次数: 0

Abstract

Pseudo-Bartter/Gitelman syndrome (PBS/PGS) is a disorder that presents with hypokalemia and metabolic alkalosis resembling Gitelman syndrome (GS) due to secondary factors, such as lifestyle and /or medicines. Notably, PBS/PGS is more likely to cause renal dysfunction than GS. We report the first case of PBS/PGS due to long-term laxative abuse leading to end-stage kidney disease (ESKD). The patient was a 49-year-old woman with a history of constipation since school, who had used excessive doses of laxatives on her own judgment for nine years at least from 22 years of age. Two years later, blood tests revealed hypokalemia (serum K 3.1 mEq/L), and nine years later, the patient's renal function began to deteriorate (Cr-eGFR 48.7 mL/min/1.73 m2). Since abuse of laxatives was suspected as the cause, it was changed to the proper dosage of laxatives. At 33 years, the patient developed acute kidney injury (AKI), due to a urinary tract infection, and required intensive treatment, including hemodialysis. Although the patient was eventually weaned off dialysis, the renal function did not recover to pre-AKI levels. In suspected GS, comprehensive genetic testing for renal disease-related genes was performed; however, no obvious pathogenic variants were identified. Thereafter, despite decreasing the laxative doses and potassium supplementation, her renal function continued to decline. At 49 years, the patient developed ESKD and was started on maintenance hemodialysis. PBS/PGS is a disease that can lead to ESKD. An early diagnosis of PBS/PGS is crucial to prevent renal function deterioration, and the underlying causes should be removed immediately.

一例因长期滥用泻药导致终末期肾病的假性巴特/吉特曼综合征。
假性巴特尔/吉特曼综合征(PBS/PGS)是一种由于生活方式和/或药物等继发因素导致的低钾血症和代谢性碱中毒的疾病,与吉特曼综合征(GS)相似。值得注意的是,PBS/PGS 比 GS 更容易导致肾功能障碍。我们报告了首例因长期滥用泻药导致终末期肾病(ESKD)的 PBS/PGS 病例。患者是一名 49 岁的女性,从学生时代起就有便秘史,至少从 22 岁起的 9 年中,她根据自己的判断使用了过量的泻药。两年后,血液检查发现了低钾血症(血清 K 3.1 mEq/L),九年后,患者的肾功能开始恶化(Cr-eGFR 48.7 mL/min/1.73 m2)。由于怀疑是滥用泻药所致,于是改用适当剂量的泻药。33 岁时,患者因尿路感染而出现急性肾损伤(AKI),需要接受包括血液透析在内的强化治疗。虽然患者最终脱离了透析,但肾功能并未恢复到急性肾损伤前的水平。对疑似肾病患者进行了肾病相关基因的全面基因检测,但未发现明显的致病变异。此后,尽管减少了泻药剂量并补充了钾,但她的肾功能仍在继续下降。49 岁时,患者患上了 ESKD,并开始接受维持性血液透析。PBS/PGS 是一种可导致 ESKD 的疾病。早期诊断 PBS/PGS 对防止肾功能恶化至关重要,应立即去除潜在病因。
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来源期刊
CEN Case Reports
CEN Case Reports UROLOGY & NEPHROLOGY-
CiteScore
1.90
自引率
0.00%
发文量
80
期刊介绍: Clinical and Experimental Nephrology (CEN) Case Reports is a peer-reviewed online-only journal, officially published biannually by the Japanese Society of Nephrology (JSN).  The journal publishes original case reports in nephrology and related areas.  The purpose of CEN Case Reports is to provide clinicians and researchers with a forum in which to disseminate their personal experience to a wide readership and to review interesting cases encountered by colleagues all over the world, from whom contributions are welcomed.
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