SciELO journals
Browse
1/1
5 files

Rare inherited kidney diseases: an evolving field in Nephrology

dataset
posted on 2020-03-25, 02:41 authored by Mariana Faucz Munhoz da Cunha, Gabriela Sevignani, Giovana Memari Pavanelli, Mauricio de Carvalho, Fellype Carvalho Barreto

Abstract There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.

History

Usage metrics

    Jornal Brasileiro de Patologia e Medicina Laboratorial

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC