NPHP1 and acute kidney injury: And her parents were asymptomatic heterozygous carriers of the variants in ADCK4. The probands from two families (family number 3 and 6), both of them were female, presented with renal failure at an early age, identified with pathogenic variants in TRPC6 gene and NPHP1 gene respectively, in addition to the c.2858G>T(p.(G953V)) variant.