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22q11.2 缺失综合征相关治疗抵抗性精神分裂症采用氯氮平治疗的病例研究。

A case study of the utilization of clozapine treatment for treatment-resistant schizophrenia associated with 22q11.2 deletion syndrome.

机构信息

Miyakonojo Shinsei Hospital, Miyakonojo, Japan.

Department of Psychiatry, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

出版信息

Neuropsychopharmacol Rep. 2023 Jun;43(2):272-276. doi: 10.1002/npr2.12333. Epub 2023 Mar 16.

Abstract

BACKGROUND

The optimal treatment strategy for patients with treatment-resistant schizophrenia (TRS) associated with 22q11.2 deletion syndrome (DS) remains a subject of debate.

CASE PRESENTATION

We present the case of a 40-year-old female patient diagnosed with TRS and 22q11.2DS who was effectively treated with clozapine. She was diagnosed with schizophrenia and mild intellectual disability during her adolescence; despite being hospitalized for a period of 10 years beginning in her 30s, she continued to exhibit symptoms of impulsivity, and explosive behavior, requiring periods of isolation. We ultimately decided to switch her medication to clozapine, which was administered with caution and gradually titrated upward, with no discernable adverse effects, resulting in a marked improvement in her symptoms and obviated the need for isolation. Subsequently, the patient's history of congenital heart disease and facial abnormalities prompted initial suspicions of a 22q11.2DS diagnosis, which was subsequently confirmed through genetic testing.

CONCLUSION

Clozapine may serve as an efficacious pharmacological intervention for TRS patients with 22q11.2DS, including those of Asian descent.

摘要

背景

与 22q11.2 缺失综合征(DS)相关的治疗抵抗性精神分裂症(TRS)患者的最佳治疗策略仍存在争议。

病例介绍

我们报告了一例 40 岁女性患者的病例,该患者被诊断为 TRS 和 22q11.2DS,使用氯氮平治疗有效。她在青春期被诊断为精神分裂症和轻度智力障碍;尽管在 30 多岁时住院治疗了 10 年,但她仍持续表现出冲动和爆发性行为的症状,需要隔离。我们最终决定将她的药物改为氯氮平,谨慎使用并逐渐滴定,没有明显的不良反应,导致她的症状明显改善,无需隔离。随后,患者的先天性心脏病和面部异常病史最初提示存在 22q11.2DS 诊断,随后通过基因检测得到证实。

结论

氯氮平可能是 22q11.2DS 患者,包括亚洲裔患者,治疗 TRS 的有效药物干预手段。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d85/10275284/be7ea54561ad/NPR2-43-272-g002.jpg

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