Rare inherited kidney diseases: an evolving field in Nephrology.
J Bras Nefrol
; 42(2): 219-230, 2020 Mar 20.
Article
em En, Pt
| MEDLINE
| ID: mdl-32227072
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Genéticas Inatas
/
Rim
/
Nefropatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Idioma:
En
/
Pt
Revista:
J Bras Nefrol
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Brasil