Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant PKD1 alleles with reduced expression. Hypomorphic PKD1 alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kid...

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Detalles Bibliográficos
Autores principales: Gulati, Ashima, Dahl, Neera K., Hartung, Erum A., Clark, Stephanie L., Moudgil, Asha, Goodwin, Julie, Somlo, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Nephrology 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10103195/
https://www.ncbi.nlm.nih.gov/pubmed/36706243
http://dx.doi.org/10.34067/KID.0000000000000064
Descripción
Sumario:Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant PKD1 alleles with reduced expression. Hypomorphic PKD1 alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement. The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from PKD1 allele combinations.

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