Int J Immunopathol Pharmacol. 2009 Oct-Dec;22(4):859-65. doi: 10.1177/039463200902200401.
Autism Spectrum Disorders (ASD) are diagnosed in early childhood and include Autism, Asperger's disorder and Pervasive neurodevelopmental disorder--not otherwise specified (PDD-NOS, or atypical autism). ASD are associated with varying degrees of dysfunctional communication and social skills, repetitive and stereotypic behaviors, as well as attention and learning disabilities. Most ASD patients also have food intolerance and other allergic symptomatology indicative of mast cell activation. The number of ASD cases have increased over the last decade to 1/100, but there is no definite pathogenesis or curative therapy. We report that the apparent prevalence of ASD in patients with mastocytosis, a rare disease occurring in 1/4,000 children and characterized by an increased number of hypersensitive mast cells in many organs, is about 1/10 or 10 times higher than the general population. A child with skin mastocytosis (urticaria pigmentosa), and regressive autism is presented to illustrate the point. Allergic, infectious, neuroimmune and environmental triggers may activate mast cells to release vasoactive, inflammatory and neurotoxic molecules. These could disrupt the gut-blood-brain-barriers, and/or activate susceptibility genes, thus contributing to brain inflammation and ASD.
自闭症谱系障碍（ASD）在幼儿期被诊断出来，包括自闭症、阿斯伯格综合征和广泛性发育障碍——未特定（PDD-NOS，或非典型自闭症）。ASD 与不同程度的沟通和社交技能障碍、重复和刻板行为以及注意力和学习障碍有关。大多数 ASD 患者还对食物不耐受和其他过敏症状表现出肥大细胞激活。在过去十年中，ASD 病例的数量增加到了 1/100，但目前还没有明确的发病机制或治愈疗法。我们报告称，肥大细胞病（一种罕见疾病，在 4000 名儿童中发生 1 例，其特征是许多器官中存在过多的敏感肥大细胞）患者中 ASD 的明显患病率约为 1/10 或 10 倍高于普通人群。我们提出了一个患有皮肤肥大细胞病（色素性荨麻疹）和退行性自闭症的儿童的病例来说明这一点。过敏、感染、神经免疫和环境触发因素可能会激活肥大细胞释放血管活性、炎症和神经毒性分子。这些可能会破坏肠道-血液-脑屏障，和/或激活易感性基因，从而导致大脑炎症和 ASD。
