Tatar Erhan, Uslu Adam, Simsek Cenk, Aykas Ahmet, Bozkaya Giray, Imamoglu Cetin
Department of Nephrology, Izmir Bozyaka Education and Research Hospital, Izmir, Turkey.
Exp Clin Transplant. 2017 Feb;15(Suppl 1):261-264. doi: 10.6002/ect.mesot2016.P131.
Fever of unknown origin is a rare condition after solid organ transplant and is generally associated with atypical infections (eg, tuberculosis, fungal infections) and/or lymphoproliferative disorders. Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin. A 22-year-old female patient with a previous history of 4 years of hemodialysis and unknown primary renal disease received a deceased-donor kidney transplant at our center 5 years previously. She had an uneventful course in the first 3 years following transplant. After this period, she was hospitalized 3 times during a 4-month period with fever, nausea, vomiting, and atypical abdominal pain. At that time, hemogram results were unremarkable, except for mild leukocytosis and slightly elevated acute-phase reactants; blood, urine, and throat cultures were negative, and there were no remarkable findings on imaging tests. Fever was controlled within 48 hours by administering empiric ampicillin-sulbactam therapy and discontinuing immunosuppressive treatment except steroids. Three successive hospital admissions owing to similar complaints suggested periodic fever syndrome, and therapy with 1 g/day colchicine led to an excellent clinical response with no recurrence of fever or other symptoms. An FMF gene mutation analysis revealed heterozygous E148Q mutation positivity. Continuing the current treatment regimen, the patient did well during at approximately 1.5 years of follow-up. In the Mediterranean region population, familial Mediterranean fever should be considered in the diagnosis of fever of unknown origin in patients who have undergone renal transplant. E148Q mutation-positive familial Mediterranean fever has a subclinical course and renal manifestations that differ from AA amyloidosis during childhood and may be responsible for de novo familial Mediterranean fever after renal transplantation.
不明原因发热是实体器官移植后一种罕见的情况，通常与非典型感染（如结核病、真菌感染）和/或淋巴增殖性疾病有关。在此，我们报告一例肾移植患者，其不明原因发热的病因是E148Q突变阳性的家族性地中海热，诊断较晚。一名22岁女性患者，有4年血液透析病史，原发性肾病不明，5年前在我们中心接受了 deceased-donor 肾移植。移植后的前3年她病情平稳。在此之后，她在4个月内因发热、恶心、呕吐和非典型腹痛住院3次。当时，血常规结果除轻度白细胞增多和急性期反应物略有升高外无明显异常；血、尿和咽培养均为阴性，影像学检查也无明显发现。通过给予经验性氨苄西林-舒巴坦治疗并停用除类固醇外的免疫抑制治疗，发热在48小时内得到控制。因类似症状连续3次住院提示周期性发热综合征，每日1g秋水仙碱治疗取得了良好的临床反应，发热及其他症状未再复发。家族性地中海热基因突变分析显示杂合性E148Q突变阳性。继续目前的治疗方案，患者在约1.5年的随访期间情况良好。在地中海地区人群中，肾移植患者不明原因发热的诊断应考虑家族性地中海热。E148Q突变阳性的家族性地中海热有亚临床病程，其肾脏表现与儿童期AA淀粉样变性不同，可能是肾移植后新发家族性地中海热的原因。
