Manz F, Gretz N
J Inherit Metab Dis. 1985;8(1):2-4. doi: 10.1007/BF01805472.
In our survey, 101 infants and children with cystinosis were registered in the Federal Republic of Germany. Ninety-five patients showed the infantile type of cystinosis, five the adolescent type and one possibly the adult type. The minimum incidence rate of infantile and adolescent cystinosis in the FRG was 1 patient per 179 000 live-births. In contrast to other countries, cystinotic patients were evenly distributed in the FRG. Patients with cystinosis originated more frequently from rural communities than from large cities. Before 1968 most patients died before reaching terminal renal failure, usually due to uncontrolled disturbances of water and electrolyte metabolism. Since 1976 the causes of death other than uraemia have been rare and most patients with terminal renal failure have entered a renal replacement program.
在我们的调查中，德意志联邦共和国登记了101例患胱氨酸病的婴幼儿和儿童。95例患者表现为婴儿型胱氨酸病，5例为青少年型，1例可能为成人型。在德意志联邦共和国，婴儿型和青少年型胱氨酸病的最低发病率为每179000例活产中有1例患者。与其他国家不同，胱氨酸病患者在德意志联邦共和国分布均匀。患胱氨酸病的患者更多来自农村社区而非大城市。1968年以前，大多数患者在达到终末期肾衰竭之前死亡，通常是由于水和电解质代谢紊乱未得到控制。自1976年以来，除尿毒症外的其他死因已很罕见，大多数终末期肾衰竭患者已进入肾脏替代治疗项目。
