Brenton D P, Isenberg D A, Cusworth D C, Garrod P, Krywawych S, Stamp T C
J Inherit Metab Dis. 1981;4(4):211-5. doi: 10.1007/BF02263654.
The adult presenting Fanconi syndrome is a rare familial disorder. A 30-year follow-up of one of the original families in the literature is reported here. Two important points have emerged. Firstly, the inheritance in this family is dominant, not recessive as originally suggested, and there remains no good example in the literature of a recessive inheritance of this disorder. Second, in this family lactic aciduria and tubular proteinuria are probably the earliest manifestations of the disorder in childhood, with glycosuria and aminoaciduria developing in the second decade and osteomalacia from the start of the fourth decade. Glomerular function deteriorates slowly but is compatible with a normal lifespan.
成人期出现的范科尼综合征是一种罕见的家族性疾病。本文报道了文献中最初提及的一个家族的30年随访情况。出现了两个要点。首先，该家族的遗传方式为显性，而非最初认为的隐性，并且文献中仍没有该疾病隐性遗传的良好实例。其次，在这个家族中，乳酸性尿和肾小管蛋白尿可能是儿童期该疾病最早的表现，糖尿和氨基酸尿在第二个十年出现，而骨软化症从第四个十年开始出现。肾小球功能缓慢恶化，但与正常寿命相符。
