Publications by authors named "Paulo Roberto Abreu da Silva"
Am J Kidney Dis
February 2011
Article Synopsis
- FHHNC is a rare hereditary disorder that disrupts magnesium and calcium balance, leading to kidney issues and a high risk of chronic kidney disease in young patients.
- Multiple mutations in the CLDN16 and CLDN19 genes, which are part of a group of proteins essential for cell junctions, are linked to this condition and related visual impairments.
- A specific case study in a Brazilian family with affected siblings highlights the typical symptoms, genetic confirmation through mutational analysis, and recent findings on how claudins impact kidney function and ion regulation.
