NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

Conclusions Considering that other mutation types in NPHP1 or mutations in other NPH-causing genes were not analyzed, NPH is a relatively frequent monogenic cause of adult-onset ESRD. Because 88% of patients had not been clinically diagnosed with NPH, wider application of genetic testing in adult-onset ESRD may be warranted.

Source: Journal of the American Society of Nephrology : JASN - May 31, 2018 Category: Urology & Nephrology Authors: Snoek, R., van Setten, J., Keating, B. J., Israni, A. K., Jacobson, P. A., Oetting, W. S., Matas, A. J., Mannon, R. B., Zhang, Z., Zhang, W., Hao, K., Murphy, B., Reindl-Schwaighofer, R., Heinzl, A., Oberbauer, R., Viklicky, O., Conlon, P. J., Stapleton, Tags: Clinical Research Source Type: research