Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease-Reference-Cited by-同舟云学术

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

Published:2023-03 Issue:3 Volume:4 Page:387-392
ISSN:2641-7650
Container-title:Kidney360
language:en
Short-container-title:Kidney360

Author:

Gulati Ashima¹²,Dahl Neera K.³,Hartung Erum A.⁴⁵,Clark Stephanie L.⁴⁵,Moudgil Asha¹,Goodwin Julie⁶,Somlo Stefan³

Affiliation:

1. Division of Nephrology, Children's National Hospital, Washington, District of Columbia

2. Children's National Research Institute, Washington, District of Columbia

3. Section of Nephrology, Department of Medicine, Yale School of Medicine, New Haven, Connecticut

4. Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

5. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania

6. Division of Nephrology, Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut

Abstract

Key Points

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Psychiatry and Mental health,Neuropsychology and Physiological Psychology

Reference17 articles.

1. Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease;Heyer;J Am Soc Nephrol.,2016

2. Collagen IV gene mutations in adults with bilateral renal cysts and CKD;Gulati;Kidney Int Rep.,2020

3. Refining genotype-phenotype correlation in autosomal dominant polycystic kidney disease;Hwang;J Am Soc Nephrol.,2016

4. Modifier genes play a significant role in the phenotypic expression of PKD1;Fain;Kidney Int.,2005

5. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD;Vujic;J Am Soc Nephrol.,2010

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