Congenital nephrotic syndrome type 09
Congenital nephrotic syndrome type 9 is an autosomal recessive disorder caused by mutations of the ADCK4 gene. The steroid resistent nephrotic syndrome that ensues is susceptible to Conenzyme Q10 substitution.
The therapy consists of lifelong substitution of Coenzym Q10.
Ashraf S et al. (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.[^]
OMIM.ORG articleOmim 615573 [^]