Zheng F, Zhao S, Li X
Division of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
Zhonghua Nei Ke Za Zhi. 2000 Nov;39(11):735-8.
To recognize the etiologies, clinical, and biochemical manifestations of Fanconi syndnome (FS).
42 patients with FS were analyzed retrospectively.
21 cases were idiopathic in 42 (50%) cases, and the other 21 (50%) cases were acquired (sjogren's 5, and interstitial nephritie 8). The patients were characterized by proximal renal tubular acidosis (n = 41) and multiple renal tubular transport dysfunctions, including hypokalemia (n = 21), hypophorphatemia (n = 29), hypourecemia (n = 19), renal glucosuria (n = 38), aminoaciduria (n = 36), low-molecular-weight proteinuria (n = 21). The clinical manifestations commonly presented with muscle weakness, polydipsia, polyuria and renal bone diseases. 18 patients presented with impaired renal function. Renal pathohistological studied in 14 patients showed renal tubulointerstitial changes of different degrees in all cases, and glomerular changes in 4.
The etiology of FS is various and secondary FS is not uncommon. FS usually present proxmal RTA and renal tubulointerstitial lesions in pathology.
认识范科尼综合征（FS）的病因、临床及生化表现。
对42例FS患者进行回顾性分析。
42例中21例（50%）为特发性，另外21例（50%）为获得性（干燥综合征5例，间质性肾炎8例）。患者以近端肾小管酸中毒（n = 41）及多种肾小管转运功能障碍为特征，包括低钾血症（n = 21）、低磷血症（n = 29）、低尿酸血症（n = 19）、肾性糖尿（n = 38）、氨基酸尿（n = 36）、低分子量蛋白尿（n = 21）。临床表现常为肌无力、多饮、多尿及肾性骨病。18例患者出现肾功能损害。14例患者的肾脏病理组织学检查显示，所有病例均有不同程度的肾小管间质改变，4例有肾小球改变。
FS病因多样，继发性FS并不少见。FS在病理上通常表现为近端肾小管酸中毒及肾小管间质病变。
