Synonyms: juvenile nephronophthisis, medullary cystic disease
This is an inherited cause of chronic tubulo-interstitial nephritis, leading to multiple cysts of varying sizes at the corticomedullary junction and medulla. It is autosomal recessive and patients develop end-stage renal failure (ESRF) by adolescence.12 The protein products, named nephrocystins, which become abnormal in this disorder, have primarily a function in cilial structures (making it a 'ciliopathy').3
This is a companion discussion topic for the original article at https://patient.info/doctor/congenital-disorders/nephronophthisis