Bartsocas C S, Crawford J D
Birth Defects Orig Artic Ser. 1974;10(4):118-26.
Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mutations characterized by glucose (renal glucosuria), and glucose-galactose malabsorption; 3) the electrolyte and water transport disorders, among which are familial hypophosphatemic rickets, vitamin D-dependent rickets, pseudohypoparathyroidism, proximal and distal renal tubular acidosis, and nephrogenic diabetes insipidus; and 4) the "mixed" kidney transport mutations such as the "Busby", Fanconi, Lowe, Luder-Sheldon syndromes, and glucoglycinuria.
迄今为止，已确定人类中约有20种遗传性肾脏转运疾病。这些疾病大多具有典型的临床特征。它们可分为四类：1）氨基酸转运突变，包括胱氨酸尿症、高双碱基氨基酸尿症、约瑟夫综合征、哈特纳普病和蛋氨酸吸收不良综合征；2）以葡萄糖（肾性糖尿）和葡萄糖 - 半乳糖吸收不良为特征的糖转运突变；3）电解质和水转运障碍，其中包括家族性低磷血症佝偻病、维生素D依赖性佝偻病、假性甲状旁腺功能减退、近端和远端肾小管酸中毒以及肾性尿崩症；4）“混合性”肾脏转运突变，如“巴斯比”综合征、范科尼综合征、洛氏综合征、卢德 - 谢尔登综合征和糖甘氨酸尿症。
