Genetic Etiologies, Diagnosis, and Management of Neonatal Cystic Kidney Disease.
Neoreviews
; 23(3): e175-e188, 2022 03 01.
Article
en En
| MEDLINE
| ID: mdl-35229136
ABSTRACT
Fetal kidney development is a complex and carefully orchestrated process. The proper formation of kidney tissue involves many transcription factors and signaling pathways. Pathogenic variants in the genes that encodethese factors and proteins can result in neonatal cystic kidney disease. Advancements in genomic sequencing have allowed us to identify many of these variants and better understand the genetic underpinnings for an increasing number of presentations of childhood kidney disorders. This review discusses the genes essential in kidney development, particularly those involved in the structure and function of primary cilia, and implications of gene identification for prognostication and management of cystic kidney disorders.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cilios
/
Enfermedades Renales Quísticas
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Límite:
Humans
/
Newborn
Idioma:
En
Revista:
Neoreviews
Año:
2022
Tipo del documento:
Article
País de afiliación:
Mongolia