Ishikawa Noriyoshi, Amano Chika, Taketani Takeshi, Kumori Koji, Harada Yuji, Hiraiwa Hisayuki, Itamura Kayoko, Maruyama Riruke
Department of Pathology (Organ Pathology Unit), 89-1 Enya, Izumo, Shimane, 693-8501, Japan.
Department of Pathology (Functional Pathology Unit), Shimane University School of Medicine, Shimane, 693-8501, Japan.
Diagn Pathol. 2015 Jul 16;10:104. doi: 10.1186/s13000-015-0344-7.
Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses. We have experienced a case of nephrogenic adenoma in a 16-year-old girl with Familial Mediterranean Fever, showing proliferative lesions diffusely in the urinary bladder and multifocally in the other parts of urinary tract. These lesions disappeared after colchicine treatment. We searched for MEFV gene mutation using the specimen from the resected urinary bladder and detected heterozygous mutation of E148Q. There is a possibility that control of inflammation caused by the surgery for vesicoureteral reflux in the local site didn't work well on the background of heterozygous mutation of MEFV gene, and as a result, nephrogenic adenoma appeared. This is the first report of a combination of two rare diseases. We have to be aware that nephrogenic adenoma can occur in association with Familial Mediterranean Fever, and the former condition should be taken into consideration when rendering a correct pathological diagnosis.
肾源性腺瘤，也称为肾源性化生，是一种尿路上皮的良性增生性病变，通常与慢性物理刺激或炎症相关。家族性地中海热是一种遗传性常染色体隐性疾病，其特征为反复出现短暂发热发作。突变位点位于控制炎症反应的MEFV基因中。我们诊治了一名患有家族性地中海热的16岁女孩，她患有肾源性腺瘤，膀胱弥漫性出现增生性病变，尿路其他部位也有多灶性病变。秋水仙碱治疗后这些病变消失。我们使用切除膀胱的标本检测MEFV基因突变，检测到E148Q杂合突变。在MEFV基因杂合突变的背景下，局部因膀胱输尿管反流手术引起的炎症控制可能不佳，结果出现了肾源性腺瘤。这是两种罕见疾病合并出现的首例报告。我们必须意识到肾源性腺瘤可能与家族性地中海热同时发生，在做出正确的病理诊断时应考虑到前者。
