Friedman A L, Trygstad C W, Chesney R W
Am J Med Genet. 1978;2(3):225-32. doi: 10.1002/ajmg.1320020303.
The "idiopathic" Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found. Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal failure.
“特发性”范科尼综合征大多为散发性，偶尔呈常染色体隐性遗传特征。然而，常染色体显性遗传的病例报道较少。我们描述了一对患有范科尼综合征的父子，即伴有肾性糖尿、全身性氨基酸尿、磷酸盐尿、代谢性酸中毒和骨病。未发现范科尼综合征的其他病因。父子俩均发展为终末期肾病。与已发表的尿毒症患者氨基酸排泄数据相比，显示出氨基酸尿超过肾功能不全时所见水平。父亲接受肾移植后肾功能改善，无范科尼综合征迹象。这个家族很独特，因为没有其他关于常染色体显性范科尼综合征进展为早期肾衰竭的报道。
