Division of Hematology/Oncology, Child Health Evaluative Sciences, Research Institute, Hospital for Sick Children and Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
Prevention Genetics, Marshfield, WI, United States.
J Pediatr Surg. 2018 May;53(5):973-975. doi: 10.1016/j.jpedsurg.2018.02.027. Epub 2018 Feb 8.
Laparoscopic partial splenectomy (LPS) theoretically maintains long-term splenic immune function for children with hereditary spherocytosis (HS). Our goal was to review our results after LPS and to determine if specific genetic mutations influence outcome.
All children with HS undergoing LPS between 2005 and 2016 were reviewed.
Thirty-one children underwent LPS (16 male) at a median age of 9 (range 2-18) years. All experienced an increase in hemoglobin and decrease in reticulocyte count early after LPS and at last follow-up. Twenty-two were sent for genetic analysis. Mutations in α-spectrin, β-spectrin, and Ankyrin were identified in 6, 5, and 11 patients, respectively. Gene mutation was not correlated with complications, perioperative transfusion, length of hospital stay, or median hemoglobin, platelet, or reticulocyte counts. Three children required completion splenectomy at 10.9, 6.9, and 3.2years post-LPS, each with a different gene mutation.
LPS is effective in reversing anemia and reducing reticulocytosis. So far less than 10% have required completion splenectomy, and those children did benefit from delaying the risks of asplenia. In this preliminary analysis, genetic mutation did not influence outcome after LPS. A larger multicenter study is necessary to further investigate potential correlations with specific genetic mutations.
Prognosis Study.
IV.
腹腔镜脾脏部分切除术(LPS)理论上可以维持遗传性球形红细胞增多症(HS)患儿的长期脾脏免疫功能。我们的目标是回顾 LPS 后的结果,并确定特定的基因突变是否影响结果。
回顾了 2005 年至 2016 年间接受 LPS 的所有 HS 患儿。
31 名儿童(16 名男性)接受 LPS 治疗,中位年龄为 9 岁(范围 2-18 岁)。所有患儿在 LPS 后早期和最后一次随访时血红蛋白增加,网织红细胞计数减少。22 人接受了基因分析。在 6 例、5 例和 11 例患者中分别发现了α-血影蛋白、β-血影蛋白和锚蛋白基因突变。基因突变与并发症、围手术期输血、住院时间或中位血红蛋白、血小板或网织红细胞计数无关。3 名患儿在 LPS 后 10.9、6.9 和 3.2 岁时需要完成脾切除术,每位患儿的基因突变均不同。
LPS 有效地逆转贫血和减少网织红细胞计数。到目前为止,不到 10%的患儿需要完成脾切除术,这些患儿确实受益于延迟无脾的风险。在本初步分析中,基因突变并未影响 LPS 后的结果。需要更大的多中心研究来进一步研究与特定基因突变的潜在相关性。
预后研究。
IV。