Juvenile nephronophthisis 1 is an atosomal recessive disorder characterized by medullary cysts and progressive renal failure.
Juvenile nephronophthisis 1 is the most common of all types of nephronophthisis. It accounts for most of end stage renal disease during childhood and adolescence (6-10%). The incidence is 1:50,000 live births.
Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred.[^]
Saunier S et al. (2000) Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.[^]
Hildebrandt F et al. (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.[^]