Miller Jennifer L, Angulo Moris
Department of Pediatrics-Endocrinology, University of Florida, Gainsville, Florida.
Am J Med Genet A. 2014 Feb;164A(2):421-4. doi: 10.1002/ajmg.a.36306. Epub 2013 Dec 5.
Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of behavioral characteristics including excessive interest in food, skin picking, difficulty with a change in routine, and obsessive and compulsive behaviors. Skin-picking can result in serious and potentially life-threatening infections. Recent evidence suggests that the excitatory neurotransmitter glutamate is dysregulated in obsessive-compulsive behaviors, and modulation of the glutaminergic pathway may decrease compulsive behaviors, such as recurrent hair pulling or skin-picking behaviors. N-acetylcysteine (NAC), a derivative of the amino acid cysteine, is thought to act either via modulation of NMDA glutamate receptors or by increasing glutathione in pilot studies. Thirty-five individuals with confirmed PWS (ages 5-39 years, 23 females/12 males) and skin-picking behavior for more than 1 year were treated with N-acetylcysteine (Pharma-NAC®) at a dose of 450-1,200 mg/day. Skin-picking symptoms and open lesions were assessed after 12 weeks of treatment by counting and measuring lesions before and after the medication. All 35 individuals had improvement in skin-picking behaviors. Ten (29%) individuals (six males and four females) did not have complete resolution of skin-picking behavior, but had significant reduction in the number of active lesions. Longer-term, placebo-controlled trials are needed to further assess the potential benefit of this treatment.
普拉德-威利综合征（PWS）是一种复杂的神经发育障碍，由15号染色体长臂（q11-q13）异常引起，导致一系列行为特征，包括对食物过度感兴趣、抠皮肤、难以适应日常变化以及强迫行为。抠皮肤可导致严重且可能危及生命的感染。最近的证据表明，兴奋性神经递质谷氨酸在强迫行为中失调，调节谷氨酸能通路可能会减少强迫行为，如反复拔毛或抠皮肤行为。N-乙酰半胱氨酸（NAC）是氨基酸半胱氨酸的衍生物，在初步研究中被认为要么通过调节NMDA谷氨酸受体起作用，要么通过增加谷胱甘肽起作用。35名确诊为PWS（年龄5-39岁，23名女性/12名男性）且有超过1年抠皮肤行为的个体接受了剂量为450-1200毫克/天的N-乙酰半胱氨酸（Pharma-NAC®）治疗。治疗12周后，通过计算和测量用药前后的损伤情况来评估抠皮肤症状和开放性损伤。所有35名个体的抠皮肤行为均有改善。10名（29%）个体（6名男性和4名女性）的抠皮肤行为未完全消除，但活跃损伤数量显著减少。需要进行长期的安慰剂对照试验来进一步评估这种治疗的潜在益处。
