范可尼综合征的临床特点与生化异常

The clinical and biochemical manifestations of Fanconi syndrome:a report of 42 cases

目的 进一步认识范可尼综合征 (FS)的病因、临床特点与生化异常。方法 对我院确诊的 42例FS患者进行回顾性分析。结果 42例FS中完全型 19例 ,不完全型 2 3例 ,主要表现为近端肾小管酸中毒 (4 1例 )伴物质转运异常 ,包括低钾血症 (2 1例 )、低磷血症 (2 9例 )、低尿酸血症 (19例 )、肾性糖尿 (38例 )、氨基酸尿 (36 /37例 )和低分子蛋白尿 (2 1例 )。病因 :特发性或原因不明 2 1例 ,继发性 2 1例 ;其中间质性肾炎 8例 ,干燥综合征 5例。临床表现以乏力、多饮、多尿、肾性骨病最常见 ,伴肾功能不全者 18例。 14例患者接受肾活检 ,结果均显示有不同程度的小管 间质病变 ,其中4例伴有肾小球病变。结论 FS病因多样 ,继发性FS并不少见 ,一般均伴有Ⅱ型肾小管酸中毒 ,并常有肾小管 间质的病理损害。

Objective To recognize the etiologies, clinical, and biochemical manifestations of Fanconi syndnome(FS). Methods 42 patients with FS were analyzed retrospectively. Results 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. Conclusions The etiology of FS is various and secondary FS is not uncommon. FS usually present proxmal RTA and renal tubulointerstitial lesions in pathology.