The pathogenic factors of primary proximal tubulopathies include X-linked hypercalciuric nephrolithiasis (caused by a pathogenic variant in Chloride channel gene CLCN5), mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene, classic Fanconi syndrome, etc. Fanconi syndrome (OMIM #134600) presents as a generalized dysfunction of renal proximal tubule, characterized by a reabsorption defect in kidney, resulting in immoderate urinary wasting of amino acids, phosphate, glucose, bicarbonate, and other solutes. Here, BCS1L is linked to Fanconi renotubular syndrome.