Nephronophthisis, Matthias T. F. Wolf & Friedhelm Hildebrandt, Pediatr Nephrol (2011) 26:181–194
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes. The symptoms, primarily polyuria, polydipsia, secondary enuresis, growth retardation, and anemia, are very subtle and may start appearing in patients as young as 6 years of age.
Renal biopsy or mutation analysis is required for a definitive diagnosis of Nephronophthisis. Over 300 cases have been published. Between 10 and 15 percent of patients show extra renal symptoms, including retinal degeneration (Senior–Loken syndrome).
The incidence of nephronophthisis varies largely, from 1:50,000 in Canada to approximately 1:1,000,000 in the USA.
Currently, the treatment of Nephronophthisis has to focus on the conservative approach of treating End Stage Renal Disease and providing dialysis and renal transplantation. Even though there is no approved specific treatment available for NPHP at this point in time, there have been some promising developments in mice models which are models for human cystic kidney disease.