Leptin signalling altered in infantile nephropathic cystinosis-related bone disorder.
The CTNS gene mutation causes infantile nephropathic cystinosis (INC). Patients with INC develop Fanconi syndrome and chronic kidney disease (CKD) with significant bone deformations. C57BL/6 Ctns mice are an animal model for studying INC. Hyperleptinaemia results from the kidney's inability...