Autosomal Recessive Polycystic Kidney Disease Latest Advances

Find the Latest Research About Autosomal Recessive Polycystic Kidney Disease

Last Updated: 06/30/2026

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Found 929 publications

Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans.

Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans.

Journal: bioRxiv : the preprint server for biology

Published: February 27, 2026

Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD.

Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD.

Journal: BMC nephrology

Published: February 11, 2026

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman.

Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman.

Journal: F1000Research

Published: February 02, 2026

Clinical characteristics and genotype-phenotype correlation for patients with autosomal recessive polycystic kidney disease and PKHD1 mutations.

Clinical characteristics and genotype-phenotype correlation for patients with autosomal recessive polycystic kidney disease and PKHD1 mutations.

Journal: Clinical nephrology

Published: December 30, 2025

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Journal: Genes

Published: December 22, 2025

Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience.

Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience.

Journal: Pediatric nephrology (Berlin, Germany)

Published: December 15, 2025

Advances in pediatric kidney diffusion tensor imaging: diagnostic and functional applications.

Advances in pediatric kidney diffusion tensor imaging: diagnostic and functional applications.

Journal: Pediatric radiology

Published: December 10, 2025

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report.

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report.

Journal: CEN case reports

Published: December 05, 2025

Deciphering the Impact of RAC1-SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models.

Deciphering the Impact of RAC1-SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: November 24, 2025

Epithelial cell expansion drives cyst progression in genetic models of autosomal recessive polycystic kidney disease.

Epithelial cell expansion drives cyst progression in genetic models of autosomal recessive polycystic kidney disease.

Journal: iScience

Published: November 17, 2025

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives.

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives.

Journal: Kidney medicine

Published: November 10, 2025

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations.

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations.

Journal: Frontiers in medicine

Published: November 07, 2025

Showing 1-12 of 929

Last Updated: 06/30/2026