Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India.
Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India.
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慢性肉芽肿病儿童的噬血细胞性淋巴组织细胞增多症——来自印度北部的单中心经验。
DOI：
10.1016/j.jaip.2020.11.041
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Lau YL and Singh S.
中科院分区：
文献类型：
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作者：
Vignesh P;Loganathan SK;Sudhakar M;Chaudhary H;Rawat A;Sharma M;Shekar A;Vaiphei K;Kumar N;Sachdeva MUS;Jindal AK;Suri D;Gupta A;Ray P;Imai K;Ohara O;Nonoyama S;Lau YL and Singh S.
背景慢性肉芽肿病（CGD）是一种遗传性疾病，其基因组中的烟酰胺腺嘌呤二核苷酸磷酸氧化酶复合物（nicotinamide adenine dinucleotide phosphate oxidase complex）的缺陷可导致潜在的危及生命的感染性和非感染性并发症。噬血细胞性淋巴组织细胞增生症（HLH）是CGD的一种罕见但重要的炎性并发症。最佳的管理策略尚未确定在儿童CGD谁开发HLH. ObjectiveHLH在CGD的临床和实验室功能分析从三级保健中心在北India.MethodsA回顾性回顾性分析在过去20年诊断的儿童CGD的病历进行。结果80例CGD患儿中，5例（6.25%）有HLH表现。所有5例均为男性; 4例为X连锁CGD，1例为常染色体隐性CGD（NCF 2缺陷）。2例CGD患儿以HLH为主要表现，模仿先天性HLH的临床表现。确定的感染触发因素为血流感染（n = 3）（白色念珠菌、新洋葱伯克霍尔德菌、弗朗西斯氏菌）、肺炎（n = 4）和脾脓肿（n = 1）。我们记录了第一个人类感染鱼类病原体，F. noatuensis，在一个孩子与X-连锁CGD。虽然死亡率被认为是在3个孩子谁只接受静脉注射（IV）免疫球蛋白治疗，其他2个谁接受IV甲基强的松龙脉冲therapy.ConclusionHLH可以是CGD的表现，CGD的工作必须考虑在儿童HLH。早期识别并对感染触发因素和HLH进行最佳管理对预防死亡非常重要。
BackgroundChronic granulomatous disease (CGD) is an inherited defect in components of the nicotinamide adenine dinucleotide phosphate oxidase complex that results in potential life-threatening infective and noninfective complications. Hemophagocytic lymphohistiocytosis (HLH) is an unusual but important inflammatory complication of CGD. Optimal management strategies have not yet been identified in children with CGD who develop HLH.ObjectiveTo analyze clinical and laboratory features of HLH in CGD from a tertiary-care center in North India.MethodsA retrospective review of medical records of children with CGD diagnosed in the last 20 years was performed. Clinical and laboratory features of children with CGD who developed HLH were analyzed.ResultsOf 80 patients diagnosed with CGD, 5 (6.25%) had evidence of HLH. All 5 were males; 4 had X-linked CGD and 1 had autosomal recessive CGD (NCF2defect). Two children with CGD had HLH as the predominant presenting manifestation mimicking the clinical presentation of congenital HLH. Infectious triggers identified were bloodstream infections (n = 3) (Candida albicans, Burkholderia cenocepacia, Francisellanoatuensis), pneumonia (n = 4), and splenic abscess (n = 1). We document the first human infection with a fish pathogen,F. noatuensis, in a child with X-linked CGD. Although mortality was seen in 3 children who received only intravenous (IV) immunoglobulin therapy, the other 2 who received IV methylprednisolone pulse therapy survived.ConclusionHLH can be a presenting manifestation of CGD, and workup for CGD must be considered in children with HLH. Early recognition with optimal management of both infectious trigger and HLH is very important to prevent mortality.