Genetic Spectrum of Nephrotic Syndrome: Impact of Podocytopathy in Adult Life.
Adv Chronic Kidney Dis
; 29(3): 221-224, 2022 05.
Article
em En
| MEDLINE
| ID: mdl-36084968
ABSTRACT
A substantial number of patients with focal segmental glomerulosclerosis (FSGS) have a pathogenic genetic mutation in a podocyte protein as the cause of their disease. The mutations can affect a wide range of cell functions including the actin cytoskeleton, cell adhesion and motility, mitochondrial function, and nuclear pore proteins. The likelihood of a genetic cause declines with age, from approximately 30% in children and adolescents to 10% in adulthood, and the specific proteins involved and the pattern of inheritance differ in the 2 age groups. The presence of a genetic cause for FSGS can have important clinical ramifications including the need for a diagnostic kidney biopsy, medical management, and the risk of recurrent disease after kidney transplantation. This review summarizes the spectrum of genetic causes of nephrotic syndrome, primarily FSGS, in adults with a focus on diagnosis, presentation, and management.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glomerulosclerose Segmentar e Focal
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Transplante de Rim
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Podócitos
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Síndrome Nefrótica
Limite:
Adolescent
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Adult
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Child
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Humans
Idioma:
En
Revista:
Adv Chronic Kidney Dis
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Nova Caledônia
País de publicação:
EEUU
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ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
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EUA
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UNITED STATES
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UNITED STATES OF AMERICA
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US
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USA