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精神分裂症样精神病与吉特林综合征:一例报告及文献综述

Schizophrenia-like psychosis and gitelman syndrome: a case report and literature review.

作者信息

Pan Bing, Mou Lijun, Li Huichun, Liu Weibo, Hu Ying

机构信息

Department of Psychiatry, Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009 Zhejiang China.

Department of Nephrology, Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009 Zhejiang China.

出版信息

Springerplus. 2016 Jun 24;5(1):875. doi: 10.1186/s40064-016-2579-5. eCollection 2016.

Abstract

INTRODUCTION

Gitelman syndrome(GS) is a rare inherited tubular disorder which is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Here, we report a case of schizophrenia-like psychosis concomitant with GS and related literatures are reviewed.

CASE DESCRIPTION

An 18-year-old male patient with 1-week history of auditory hallucinations, sense of insecurity, delusions of reference and feelings of being followed and controlled by others unknown, insomnia was admitted to Psychiatry department in December, 2013. Hypokalemia and hypomagnesemia were noted. He was diagnosed as schizophrenia-like psychosis. Treatment with paliperidone at the dose of 6 mg/day and magnesium and potassium supplementations was commenced. However, electrolyte disturbances failed to improve following psychosis remission. Therefore, other underlying diseases resulting in electrolyte disturbances were suspected. Along with hypokalemia and hypomagnesemia, additional investigation showing metabolic alkalosis, hypocalciuria, renal loss of potassium, were consistent with GS. Gene analysis revealed this patient carried out c. 2687 G > A homozygous mutation of exon 23 in the SLC12A3 gene which led to p.Arg896Gln. Eventually, GS was identified. Thus, additional spironolactone (40 mg/day) combined with increased doses of oral potassium chloride sustained-release tablets (3.0 g/day) and potassium magnesium aspartate (0.3 g/day) were administered. During next half a year, fatigue resolved, paliperidone gradually tapered and eventually discontinued while psychosis maintained complete remission. His serum potassium was near normal (3.2-3.5 mmol/L), hypomagnesemia significantly improved (0.57-0.67 mmol/L).

DISCUSSION AND EVALUATION

Electrolyte abnormalities secondary to GS might cause or contribute to development of neuropsychiatric symptoms. In turn, hypokalemia was common among acute psychiatric inpatients. As a consequence, when concomitant with psychosis, GS was readily concealed.

CONCLUSION

Electrolyte disturbances are common in acute psychiatric patients. However, when electrolyte disturbances are not improved following psychosis remission, other underlying diseases such as GS should be considered.

摘要

引言

吉特林综合征(GS)是一种罕见的遗传性肾小管疾病,其特征为低钾血症、代谢性碱中毒、低镁血症和低钙尿症。在此,我们报告一例伴有GS的精神分裂症样精神病病例,并对相关文献进行综述。

病例描述

一名18岁男性患者,有1周的幻听、不安全感、关系妄想以及被他人跟踪和控制的感觉,伴有失眠,于2013年12月入住精神科。检查发现低钾血症和低镁血症。他被诊断为精神分裂症样精神病。开始使用剂量为6mg/天的帕利哌酮以及补充镁和钾进行治疗。然而,精神病缓解后电解质紊乱仍未改善。因此,怀疑存在导致电解质紊乱的其他潜在疾病。除低钾血症和低镁血症外,进一步检查显示代谢性碱中毒、低钙尿症、肾性失钾,这些与GS相符。基因分析显示该患者在SLC12A3基因的第23外显子存在c.2687G>A纯合突变,导致p.Arg896Gln。最终确诊为GS。于是,加用螺内酯(40mg/天),同时增加口服氯化钾缓释片剂量(3.0g/天)和门冬氨酸钾镁(0.3g/天)。在接下来的半年里,疲劳症状消失,帕利哌酮逐渐减量并最终停用,而精神病症状保持完全缓解。他的血清钾接近正常(3.2 - 3.5mmol/L),低镁血症明显改善(0.57 - 0.67mmol/L)。

讨论与评估

GS继发的电解质异常可能导致或促成神经精神症状的发生。反过来,低钾血症在急性精神病住院患者中很常见。因此,当伴有精神病时,GS很容易被掩盖。

结论

电解质紊乱在急性精神病患者中很常见。然而,当精神病缓解后电解质紊乱仍未改善时,应考虑其他潜在疾病,如GS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a7/4920738/c2a9fae238e8/40064_2016_2579_Fig1_HTML.jpg

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