Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

Abstract

The Chinese Children Genetic Kidney Disease Database registry characterised the spectrum of the phenotype and genotype of NPHP-RC in the Chinese population. <i>NPHP1</i> and <i>NPHP3</i> were the most common pathogenic genes. Rapid progression to ESRD and liver involvement were noted in patients with <i>NPHP3</i> mutations.