McNamara P D, Rea C T, Bovee K C, Reynolds R A, Segal S
Division of Biochemical Development and Molecular Diseases, Children's Hospital, Philadelphia, PA.
Metabolism. 1989 Jan;38(1):8-15. doi: 10.1016/0026-0495(89)90173-x.
Two animal models for cystinuria have been examined: the Basenji dog with Fanconi syndrome and cystine stone-forming dogs of various breeds. Brush-border membranes were isolated from these animals and uptake of D-glucose and L-cystine was characterized. Experiments with isolated brush-border vesicles from Basenji dogs with cystinuria as a component of the Fanconi syndrome showed diminished sodium-dependent D-glucose uptake but no decrease in L-cystine uptake even though the cystine defect in vivo was as high as 94% (ie, 6% reabsorption). In contrast, brush-border vesicles isolated from the kidney of a cystine stone-forming dog (Welsh Corgi) with a cystine defect of only 16% (ie, 84% reabsorption) had decreased uptake of cystine compared to values found for Beagle and Basenji vesicles. Thus, cystinuria found in Basenji dogs with the Fanconi syndrome differs from that in classic stone-forming cystinuric dogs. The alteration responsible for the cystinuria of Basenji dogs with Fanconi syndrome does not appear to have a membrane locus and may reflect altered energetics for transport, which are not detected in isolated vesicles. The cystine defect in cystinuric stone-forming dogs does appear to be reflected in the isolated membrane.
患有范科尼综合征的巴仙吉犬以及各种品种的形成胱氨酸结石的犬。从这些动物中分离出刷状缘膜，并对D-葡萄糖和L-胱氨酸的摄取进行了表征。以患有范科尼综合征的巴仙吉犬的分离刷状缘小泡为实验对象，结果显示钠依赖性D-葡萄糖摄取减少，但L-胱氨酸摄取并未减少，尽管体内胱氨酸缺陷高达94%（即重吸收率为6%）。相比之下，从一只胱氨酸缺陷仅为16%（即重吸收率为84%）的形成胱氨酸结石的犬（威尔士柯基犬）的肾脏中分离出的刷状缘小泡，与比格犬和巴仙吉犬小泡相比，胱氨酸摄取减少。因此，患有范科尼综合征的巴仙吉犬中的胱氨酸尿症与典型的形成结石的胱氨酸尿症犬不同。导致患有范科尼综合征的巴仙吉犬胱氨酸尿症的改变似乎没有膜定位，可能反映了转运能量学的改变，而这在分离的小泡中未被检测到。形成胱氨酸结石的胱氨酸尿症犬中的胱氨酸缺陷似乎在分离的膜中得到了体现。
