Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; The Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Kidney Int. 2019 Aug;96(2):275-277. doi: 10.1016/j.kint.2019.05.016.
Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin. The multiple organ dysfunctions of affected patients were thought to be related to the defective protein, with cystine crystal formation. However, such crystals were not always present when looked for. More recently, study of the biology of cystinosis has expanded to include many other cellular processes that may be pathogenic in the disease, and now galectin-3 can be added to those identified.
遗传性胱氨酸贮积症是肾性范可尼综合征最常见的遗传原因，是由溶酶体胱氨酸转运蛋白胱氨酸酶功能障碍引起的。受影响患者的多种器官功能障碍被认为与缺陷蛋白和胱氨酸晶体形成有关。然而，当寻找这些晶体时并不总是能找到。最近，对胱氨酸贮积症生物学的研究已经扩展到包括许多其他可能在疾病中具有致病性的细胞过程，现在可以将半乳糖凝集素-3添加到已鉴定的过程中。
