副神经节瘤是一种不太普遍的疾病,和仅分泌白细胞介素-6(IL-6)的副神经节瘤以前没有报道。一名64岁的男性患者带着发烧和心悸的主要投诉来到医院。峰值体温为38.7°C(101.66°F)。心率是110bpm,而血压在正常范围内。抗生素和抗病毒治疗无效。血IL-6、C反应蛋白(CRP)水平,碱性磷酸酶(ALP),血小板(PLT),谷氨酰转移酶(GGT),纤维蛋白原,D-二聚体均升高。传染病,自身免疫性疾病,和恶性血液病均被排除。近10年前,意外发现患者的腹膜后大肿块。幸运的是,定期随访后,过去10年没有出现特殊症状。这次入院后,进行PET-CT检查。在腹部和腹膜后区域的上部可见一个大的混杂密度肿块,并考虑了副神经节瘤的可能性。然而,血液和尿液儿茶酚胺及其代谢物包括肾上腺素的生化测定,去甲肾上腺素,3-甲氧基酪胺,甲氧基肾上腺素,甲氧基去甲肾上腺素,尽管多巴胺轻度升高,但扁桃酸和香草酸都在正常范围内。患者基因组DNA的全外显子组捕获和测序显示KIF1B基因编码位点的杂合突变(编码:NM_015047.3:c.460G>C,突变:p.Val1554Leu;染色体位置为chr1:10428570)。在KIF1B的该基因座处的突变以前没有报道过。患者拒绝手术治疗。因为肿块负担了包括胰腺在内的几个重要器官,手术的风险很高。然后向患者施用多沙唑嗪。服用多沙唑嗪后,症状迅速消失。体温在3天内恢复到正常范围。心率降至约90bpm。在接下来的日子里,IL-6,CPR,ALP,血小板,GGT纤维蛋白原,D-二聚体持续下降。服用多沙唑嗪63天后,IL-6水平完全正常。服药190天后,血红蛋白(Hb)和GGT水平也恢复到正常范围。发病1年后,病人再次接受了血液检查。包括IL-6在内的几乎所有血液指标均在正常范围内。
Paraganglioma is a less prevalent disease, and paraganglioma with only secreting interleukin-6 (IL-6) has not been previously reported. A 64-year-old male patient came to the hospital with the chief complaints of fever and palpitations. The peak body temperature was 38.7°C (101.66°F). Heart rate was 110 bpm, while blood pressure was in the normal range. Antibiotics and antiviral therapies were ineffective. The levels of blood IL-6, C-reactive protein (CRP), alkaline phosphatase (ALP), platelets (PLT), glutamyltransferase (GGT), fibrinogen, and D-dimer were all elevated. Infectious diseases, auto-immune diseases, and hematological malignancy were all excluded. Nearly 10 years ago, a large retroperitoneal mass of the patient was detected by accident. Fortunately, there have been no special symptoms for the past 10 years after regular follow-up. After admission this time, PET-CT was performed. A large confounding density mass at the upper part of the abdominal and retroperitoneal area was seen, and the possibility of paraganglioma was considered. However, biochemical assays for blood and urine catecholamine and their metabolites including adrenaline, norepinephrine, 3-methoxytyramine, methoxyepinephrine, methoxynorepinephrine, and vanillylmandelic acid were all in normal range in spite of mild elevated dopamine with no significance. The whole-exome capture and sequencing of the genomic DNA of the patient showed a heterozygous mutation in the coding site of KIF1B gene (Coding: NM_015047.3:c.4660G>C, Mutation: p.Val1554Leu; chromosomal location was chr1: 10428570). The mutation at this locus of KIF1B has not been reported previously. The patient refused the surgical treatment. Because the mass burdens several important organs including the pancreas, the risk of surgery was high.
Doxazosin was then administered to the patient. After taking
doxazosin, the symptoms disappeared rapidly. Body temperature returned to normal range in 3 days. Heart rate decreased to approximately 90 bpm. In the following days, the levels of IL-6, CPR, ALP, platelets, GGT fibrinogen, and D-dimer continued to decrease. After 63 days of taking
doxazosin, IL-6 level was completely normal. After 190 days of medication, hemoglobin (Hb) and GGT levels also returned to the normal range. After 1 year onset, the patient again underwent a blood test. Almost all blood indexes were in the normal range including IL-6.