O'Sullivan D A, Torres V E, Gabow P A, Thibodeau S N, King B F, Bergstralh E J
Department of Nephrology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.
Am J Kidney Dis. 1998 Dec;32(6):976-83. doi: 10.1016/s0272-6386(98)70072-1.
Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease (ADPKD) have shown that the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is present in the apical surface of these cells and mediates chloride (Cl-) and fluid secretion in vitro. To determine whether the presence of CF with the expression of mutated CFTR proteins modifies cyst formation in ADPKD, we studied a large family with both inherited diseases. ADPKD in this family is linked to PKD1. The family is composed of 26 members; 11 members with ADPKD, 4 members with CF, and 2 members with both diseases. Renal volumes measured by computerized tomography (CT), calculated creatinine clearances, and other clinical parameters in the family members with ADPKD and CF were compared with those in the family members with ADPKD alone, as well as to a large population of patients with ADPKD. The patients with CF and ADPKD, but not the CF heterozygote carriers with ADPKD, had less severe polycystic kidney and liver disease, as indicated by normal renal function; smaller renal volume, even when corrected for height and body surface area; and the absence of hypertension and liver cysts. These observations suggest that the coexistence of CF may reduce the severity of ADPKD.
最近对常染色体显性多囊肾病（ADPKD）患者肾脏培养的囊肿上皮细胞进行的实验表明，囊性纤维化（CF）跨膜传导调节因子（CFTR）存在于这些细胞的顶端表面，并在体外介导氯离子（Cl-）和液体分泌。为了确定CF与突变CFTR蛋白表达的共存是否会改变ADPKD中的囊肿形成，我们研究了一个患有这两种遗传性疾病的大家族。该家族中的ADPKD与PKD1相关。这个家族由26名成员组成；11名患有ADPKD，4名患有CF，2名患有这两种疾病。将患有ADPKD和CF的家族成员通过计算机断层扫描（CT）测量的肾脏体积、计算的肌酐清除率和其他临床参数，与仅患有ADPKD的家族成员以及大量ADPKD患者进行比较。患有CF和ADPKD的患者，但不包括患有ADPKD的CF杂合子携带者，其多囊肾和肝病的严重程度较低，表现为肾功能正常；肾脏体积较小，即使根据身高和体表面积进行校正；并且没有高血压和肝囊肿。这些观察结果表明，CF的共存可能会降低ADPKD的严重程度。
