The need for genetic study to diagnose some cases of distal renal tubular acidosis

The need for genetic study to diagnose some cases of distal renal tubular acidosis

We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed...

Full description

Bibliographic Details
Main Authors: Manuel Heras Benito, Miguel A. Garcia-Gonzalez, María Valdenebro Recio, Álvaro Molina Ordás, Ramiro Callejas Martínez, María Astrid Rodríguez Gómez, Leonardo Calle García, Lisbeth Sousa Silva, María José Fernández-Reyes Luis
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Nefrología (English Edition)
Subjects:
Nephrocalcinosis
Autosomal dominant distal renal tubular acidosis
Chronic kidney disease
NGS genetic panels
Online Access:http://www.sciencedirect.com/science/article/pii/S2013251416301262

Internet

http://www.sciencedirect.com/science/article/pii/S2013251416301262

Similar Items