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Abstract：
BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder caused by complex interactions between genetic and environmental factors. Recent studies suggest that Vitamin D3 or bumetanide therapy may improve the core symptoms of ASD in some individuals. However, there are no guidelines that provide clinicians with evidence-based treatment regimens for the use of these therapies in ASD.
METHODS: A 30-month-old female was referred to our department because she did not respond when her name was called.
METHODS: The patient was diagnosed with ASD by a team of autism experts according to American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria.
METHODS: The patient was administered Vitamin D3 150,000 IU intramuscularly once a month and Vitamin D3 800 IU orally each day. After 6 months, Vitamin D3 supplementation was discontinued because of lack of effectiveness. Subsequently, oral bumetanide 0.5 mg twice daily was initiated.
RESULTS: The patient\'s symptoms remained unchanged after 6 months of Vitamin D3 supplementation, and her serum 25 (OH) D levels had reached 52.4 ng/mL. At the parent\'s request, Vitamin D3 supplementation was discontinued because of lack of effectiveness. Thereafter, bumetanide was initiated. After 1 month of bumetanide, the patient\'s Childhood Autism Rating Scale score was 26, which is below the cutoff score for ASD. This case report suggests that Vitamin D3 and bumetanide target different mechanisms in the pathogenesis of ASD.
CONCLUSIONS: Based on these observations, we discuss three possible scenarios for Vitamin D3 supplementation and propose that bumetanide should be initiated if Vitamin D3 supplementation is ineffective (identifier ChiCTR-CCC-13004498).
METHODS: A 30-month-old female was referred to our department because she did not respond when her name was called.
METHODS: The patient was diagnosed with ASD by a team of autism experts according to American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria.
METHODS: The patient was administered Vitamin D3 150,000 IU intramuscularly once a month and Vitamin D3 800 IU orally each day. After 6 months, Vitamin D3 supplementation was discontinued because of lack of effectiveness. Subsequently, oral bumetanide 0.5 mg twice daily was initiated.
RESULTS: The patient\'s symptoms remained unchanged after 6 months of Vitamin D3 supplementation, and her serum 25 (OH) D levels had reached 52.4 ng/mL. At the parent\'s request, Vitamin D3 supplementation was discontinued because of lack of effectiveness. Thereafter, bumetanide was initiated. After 1 month of bumetanide, the patient\'s Childhood Autism Rating Scale score was 26, which is below the cutoff score for ASD. This case report suggests that Vitamin D3 and bumetanide target different mechanisms in the pathogenesis of ASD.
CONCLUSIONS: Based on these observations, we discuss three possible scenarios for Vitamin D3 supplementation and propose that bumetanide should be initiated if Vitamin D3 supplementation is ineffective (identifier ChiCTR-CCC-13004498).
摘要：
背景：自闭症谱系障碍（ASD）是一种常见的神经发育障碍，由遗传和环境因素之间的复杂相互作用引起。最近的研究表明，维生素D3或布美坦治疗可以改善某些个体的ASD的核心症状。然而,没有指南为临床医生提供在ASD中使用这些疗法的循证治疗方案.
方法：一名30个月大的女性被转诊到我们的部门，因为她的名字被呼叫时没有回应。
方法：患者由一组自闭症专家根据美国精神病学协会精神疾病诊断和统计手册（DSM-5）标准诊断为ASD。
方法：患者每月一次肌内注射维生素D3150,000IU，每天口服维生素D3800IU。六个月后,由于缺乏有效性，停止了维生素D3的补充。随后，开始口服布美他尼0.5mg,每日2次.
结果：在补充维生素D36个月后，患者的症状保持不变，血清25(OH)D水平达到52.4ng/mL。应家长的要求，由于缺乏有效性，停止了维生素D3的补充。此后,开始使用布美他尼。布美他尼1个月后，患者的儿童自闭症量表评分为26分,低于ASD的临界值.该病例报告表明，维生素D3和布美他尼在ASD的发病机理中具有不同的作用机制。
结论：基于这些观察，我们讨论了补充维生素D3的三种可能方案,并建议如果补充维生素D3无效,则应开始使用布美他尼(标识符ChiCTR-CCC-13004498).
方法：一名30个月大的女性被转诊到我们的部门，因为她的名字被呼叫时没有回应。
方法：患者由一组自闭症专家根据美国精神病学协会精神疾病诊断和统计手册（DSM-5）标准诊断为ASD。
方法：患者每月一次肌内注射维生素D3150,000IU，每天口服维生素D3800IU。六个月后,由于缺乏有效性，停止了维生素D3的补充。随后，开始口服布美他尼0.5mg,每日2次.
结果：在补充维生素D36个月后，患者的症状保持不变，血清25(OH)D水平达到52.4ng/mL。应家长的要求，由于缺乏有效性，停止了维生素D3的补充。此后,开始使用布美他尼。布美他尼1个月后，患者的儿童自闭症量表评分为26分,低于ASD的临界值.该病例报告表明，维生素D3和布美他尼在ASD的发病机理中具有不同的作用机制。
结论：基于这些观察，我们讨论了补充维生素D3的三种可能方案,并建议如果补充维生素D3无效,则应开始使用布美他尼(标识符ChiCTR-CCC-13004498).
