Department of Pediatrics, Jimmy Everest Section of Pediatric Hematology/Oncology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Pediatr Blood Cancer. 2020 Jan;67(1):e28017. doi: 10.1002/pbc.28017. Epub 2019 Sep 25.
Systemic mastocytosis is a rare entity in pediatrics, usually associated with mutations in the c-KIT gene. We describe a Caucasian female who presented with severe systemic mastocytosis with food allergies requiring prolonged total parenteral nutrition. Her course was further complicated by the onset of hemophagocytic lymphohistiocytosis, which responded poorly to conventional chemotherapy. She underwent an allogeneic hematopoietic stem cell transplant that resulted in resolution of all symptoms related to systemic mastocytosis and hemophagocytic lymphohistiocytosis. She is now disease-free and without any complications two years after the transplant.
系统性肥大细胞增多症在儿科中较为罕见，通常与 c-KIT 基因突变有关。我们描述了一位白人女性，她患有严重的系统性肥大细胞增多症伴食物过敏，需要长期全胃肠外营养。她的病情进一步复杂化，出现噬血细胞性淋巴组织细胞增生症，对常规化疗反应不佳。她接受了异基因造血干细胞移植，所有与系统性肥大细胞增多症和噬血细胞性淋巴组织细胞增生症相关的症状均得到缓解。移植后两年，她无病生存，无任何并发症。
