Weidner Johannes, Fiedler Kai, Schulze-Becking Mechthild, Sentner Christiaan Peter, Korenke Christoph, Heep Axel
Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.
School VI-School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.
Front Pediatr. 2024 Sep 25;12:1367532. doi: 10.3389/fped.2024.1367532. eCollection 2024.
Central conducting lymphatic anomaly (CCLA) is a heterogeneous disorder characterized by structural anomalies in the main collecting lymphatic vasculature. These anomalies result in chronic chylous leaks, causing issues such as congenital hydrothorax and potentially impairing the normal immune response. Recently, mutations in the MyoD family inhibitor domain-containing () gene have been identified as a cause of CCLA. Group A infections are common, and timely identification of patients at risk for severe complications is crucial.
Here, we present the case of a 13-year-old female patient with CCLA associated with an mutation, who suffered from a severe group A sepsis. Initially, the patient was unresponsive to aggressive fluid resuscitation. Although the course of the sepsis was severe, standardized treatment according to the surviving sepsis campaign proved effective in stabilizing the patient.
The patient's mutation may have contributed to the severe clinical course of the sepsis. It is theorized that this mutation affects the function of the immune system both indirectly, by causing CCLA, and directly, by potentially influencing transcriptional activity in immune cells. More research on the effect of mutations on immune responses is required.
中央传导性淋巴异常（CCLA）是一种异质性疾病，其特征是主要集合淋巴管系统存在结构异常。这些异常导致慢性乳糜漏，引发先天性胸腔积液等问题，并可能损害正常免疫反应。最近，含肌分化蛋白（MyoD）家族抑制域基因的突变已被确定为CCLA的一个病因。A组链球菌感染很常见，及时识别有严重并发症风险的患者至关重要。
在此，我们报告一例13岁女性CCLA患者，该患者伴有[具体基因名称]突变，患有严重的A组链球菌败血症。最初，患者对积极的液体复苏无反应。尽管败血症病程严重，但根据拯救脓毒症运动进行的标准化治疗在稳定患者病情方面被证明是有效的。
患者的[具体基因名称]突变可能导致了败血症的严重临床病程。理论上，这种突变通过引起CCLA间接影响免疫系统功能，并通过潜在影响免疫细胞中的转录活性直接影响免疫系统功能。需要对[具体基因名称]突变对免疫反应的影响进行更多研究。
