Nephrocystin: More Notable than we thought?

Nephrocystin: More Notable than we thought?

To most Nephrologists, Nephronophthisis (NPH) is considered to be a rare autosomal recessive paediatric disease. However, this article by Snoek et al challenges that belief, by examining the prevalence of mutations that cause NPH, in adults with end stage renal disease (ESRD). Read our NephJC summary below and come along to our Twitter Journal Club discussion to find out whether you might consider a diagnosis of NPH, next time you see that patient carrying a label of ‘ESRD, cause unknown’.