Department of Dermatology, Hospital del Niño Jesús, Madrid, Spain.
Curr Opin Pediatr. 2012 Aug;24(4):480-6. doi: 10.1097/MOP.0b013e328355b248.
Important advances have been achieved in recent years in adult mastocytosis. However, our knowledge about childhood mastocytosis is limited because invasive tests are not routinely performed in children. We ignore the frequency of systemic involvement in childhood mastocytosis, its outcome, and which are the main clinical and laboratory parameters associated with persistence into adult mastocytosis and its severity.
Childhood mastocytosis is a clonal mast cell disease, with different activating mutations in the KIT gene discovered in most patients. Serum tryptase is the best marker for mast cell burden in children, and, at baseline, correlates well with the severity of symptoms in childhood mastocytosis. Systemic mastocytosis definitely may occur in children, but bone marrow studies to demonstrate a systemic involvement are not routinely performed nor recommended; it can be estimated that around 30% of children may have bone marrow involvement as demonstrated by showing aggregates of mast cells or by flow cytometry of mast cells expressing the aberrant CD25 marker.
A new and improved classification of childhood mastocytosis is needed, and should be based on the correlation of clinical manifestations, morphology of mast cells in the skin, and the predicted outcome of the disease. The current classifications of childhood mastocytosis do not address any of these important issues.
目的综述：近年来，成人肥大细胞增多症取得了重要进展。然而，由于儿童通常不进行侵入性检查，我们对儿童肥大细胞增多症的了解有限。我们忽略了儿童肥大细胞增多症中系统性受累的频率、其结局，以及哪些是与成年后持续性肥大细胞增多症及其严重程度相关的主要临床和实验室参数。
最新发现：儿童肥大细胞增多症是一种克隆性肥大细胞疾病，大多数患者的 KIT 基因中发现了不同的激活突变。血清类胰蛋白酶是儿童肥大细胞负荷的最佳标志物，在基线时，与儿童肥大细胞增多症症状的严重程度相关性良好。系统性肥大细胞增多症确实可能发生在儿童中，但通常不进行也不推荐进行骨髓研究以证明系统性受累；可以估计，大约 30%的儿童可能有骨髓受累，表现为肥大细胞聚集或通过表达异常 CD25 标志物的肥大细胞流式细胞术显示。
总结：需要制定一种新的、改进的儿童肥大细胞增多症分类方法，该分类方法应基于临床表现、皮肤肥大细胞形态以及疾病的预测结局的相关性。目前的儿童肥大细胞增多症分类方法没有解决这些重要问题。
