一名患有进行性蛋白尿性肾病的囊性纤维化患者：一种囊性纤维化特异性结节性肾小球硬化症？

O'Connell Oisin, Magee Ciara N, Fitzgerald Brendan, Burke Louise, Plant William D, Plant Barry J

Cork Adult Cystic Fibrosis Centre , Cork University Hospital , University College Cork , Ireland.

Department of Renal Medicine , Cork University Hospital , University College Cork , Ireland.

NDT Plus. 2010 Aug;3(4):354-6. doi: 10.1093/ndtplus/sfq054. Epub 2010 Apr 9.

Cystic fibrosis (CF) is a multisystemic disease but without a classical disease-specific renal phenotype. A 32-year-old male patient with CF (ΔF508/ΔF508) presented with a nephrotic syndrome. Renal biopsy revealed nodular glomerulosclerosis (NGS) occurring in the absence of diabetes mellitus, amyloidosis and any other known common cause of NGS. He had a progressive decline in estimated glomerular filtration rate (eGFR) to chronic kidney disease stage V (eGFR <15 mL/min/1.73 m(2)) over a 3-year period despite optimal medical management. This is the fourth reported case of NGS in a patient with CF without diabetes and is the first to originate from a European country. This case supports the concept of a CF-related NGS.

囊性纤维化（CF）是一种多系统疾病，但没有典型的疾病特异性肾脏表型。一名32岁的CF男性患者（ΔF508/ΔF508）出现肾病综合征。肾活检显示在无糖尿病、淀粉样变性及任何其他已知的导致结节性肾小球硬化（NGS）的常见病因的情况下发生了结节性肾小球硬化。尽管进行了最佳的药物治疗，但在3年时间里，他的估计肾小球滤过率（eGFR）逐渐下降至慢性肾脏病V期（eGFR<15 mL/min/1.73 m²）。这是第四例报道的无糖尿病的CF患者发生NGS的病例，也是首例来自欧洲国家的病例。该病例支持了与CF相关的NGS这一概念。