临床病例讨论第467例——蛋白尿、甲沟纤维瘤、面部皮脂腺瘤

The 467th case:proteinuria,periungual fibromas,and facial steatadenomas

患者男性,22岁。因水肿、蛋白尿1年余就诊,考虑为难治性肾病综合征。体检发现患者面部皮脂腺瘤、甲周纤维瘤,影像学显示中枢神经系统、心脏、肺、肝脏、肾脏等多系统受累,基因检查为TSC2基因突变,诊断结节性硬化症。基因检测同时发现APOL1基因突变,提示患者同时存在糖皮质激素抵抗型的局灶节段性肾小球硬化症的可能性。使用西罗莫司治疗,治疗初期肾脏血管平滑肌瘤体积缩小,但尿蛋白始终未缓解(24h尿蛋白>10g),最终仍发展为肾功能不全,开始非透析治疗,包括监测血压、血糖和血脂,餐中嚼服碳酸钙500mg、3融d,瑞舒伐他汀20mg/d,补充维生素B1(10mg/d)和叶酸(10mg/d),使用氯沙坦50mg/d控制尿蛋白并监测血肌酐变化。2018年10月电话随访未联系到患者,未能获得治疗近况。

A 22-year-old manpresented as a refractory nephrotic syndrome with edema and proteinuria for more than one year.Physical examination revealed facial steatadenomas and periungual fibromas.Images were characterized by hamartomatous lesions in multiple organs,including the central nervous system,heart,lungs,liver,and kidneys.Gene tests verified TSC2 mutation and confirmed the diagnosis of tuberous sclerosis complex.The APOL1 mutation was positive in this patient,which indicated the possibility of steroid-resistant focal segmental glomerulonephritis.Thus,he was treated with sirolimus. Renal angiomyolipoma was shrunk,but proteinuria was not relieved (24h unine protein>10g)and eventually led into renal insufficiency.Nondialytic therapy was initiated consequently.Losartan 50mg/d was used to control proteinuria under the close watch of serum creatinine.A recent phone call on October 2018 failed to reachthe patient.Therefore,the follow-up information was not updated.