Key Points

Ketogenic diet can change the metabolism in the body and helped restore the function of altered pathways in nephropathic cystinosis.Ketogenic diet had significant benefits for preventing kidney damage, even when initiated after the onset of kidney impairment.Ketogenic diet may provide a partial therapeutic alternative in countries where cysteamine therapy is too expensive.

Background

Nephropathic cystinosis is a rare inherited lysosomal storage disorder caused by mutations in the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. From the standpoint of the kidneys, patients develop early-onset renal Fanconi syndrome and progressive CKD. Current therapy with cysteamine delays but does not prevent kidney failure and has significant side effects that limit adherence and reduce the quality of life of patients.

Methods

We have tested biochemically and histologically the effects of ketogenic diet on kidney disease of two animal models of nephropathic cystinosis.

Results

When Ctns−/− mice were fed with ketogenic diet from 3 to 12 months of age, we observed significant nearly complete prevention of Fanconi syndrome, including low molecular weight proteinuria, glycosuria, and polyuria. Compared with wild-type animals, BUN at 12 months was higher in cystinotic mice fed with standard diet (P

Conclusions

These results indicate significant mitigation of the kidney phenotype in cystinotic animals fed with ketogenic diet.