In this study, due to the limited genetics information for CTNS genotypic phenotype available in Chinese population, we firstly carried out the mutation screening of SLC34A3 [18] and SLC34A1 [19] (which independently cause recessive renal Fanconi syndrome) in the family but negative results were obtained (data not shown). The gene discussed is SLC34A3; the disease is Fanconi renotubular syndrome.