Hereditary polycystic kidney disease: genetic diagnosis and counseling

Whittle, Martin; Simões, Ricardo

doi:10.1590/1806-9282.60.01.004

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2023

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Cited by 4 publications

References 35 publications

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Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management

Hanna,

Iliuta,

Besse

et al. 2023

Seminars in Nephrology

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Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management

Hanna,

Iliuta,

Besse

et al. 2023

Seminars in Nephrology

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Genetic Etiologies, Diagnosis, and Management of Neonatal Cystic Kidney Disease

et al. 2022

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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.

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