The clinical and biochemical manifestations of Fanconi syndrome: a report of 42 cases
Zheng, F.; Zhao, S.; Li, X.
Zhonghua Nei Ke Za Zhi 39(11): 735-738
2000
ISSN/ISBN: 0578-1426 PMID: 11798532 Document Number: 522252
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.