关键词: 22q11.2 deletion syndrome Asian clozapine treatment-resistant schizophrenia

Mesh : Humans Female Adolescent Adult DiGeorge Syndrome / complications drug therapy genetics Schizophrenia / complications drug therapy genetics Clozapine / therapeutic use Schizophrenia, Treatment-Resistant Genetic Testing

来  源:   DOI:10.1002/npr2.12333   PDF(Pubmed)

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.
METHODS: 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.
CONCLUSIONS: 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)相关的难治性精神分裂症(TRS)患者的最佳治疗策略仍然是一个争论的话题。
方法:我们介绍了一例40岁女性患者,诊断为TRS和22q11.2DS,并使用氯氮平有效治疗。她在青春期被诊断出患有精神分裂症和轻度智力障碍;尽管从30多岁开始住院了10年,她继续表现出冲动的症状,和爆炸性行为,需要一段时间的隔离。我们最终决定把她的药物换成氯氮平,谨慎管理并逐渐向上滴定,没有明显的副作用,导致她的症状明显改善,并避免了隔离的需要。随后,患者的先天性心脏病和面部异常病史促使最初怀疑22q11.2DS诊断,随后通过基因检测证实。
结论:氯氮平可能是治疗TRS患者22q11.2DS的有效药物干预措施,包括亚裔.
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