Autosomal dominant polycystic kidney disease
Abstract
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.
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ADPKD and ADPLD have been linked to pathogenic GII variants.
“Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GII variants.”
From GANAB and N-Glycans Substrates Are Relevant in Human Physiology, Polycystic Pathology and Multiple Sclerosis: A Review (2022) · cites this paper as [424]
Unlike mutations in GIIβ associated with ADPLD, the phenotypic picture of mutations in GIIα is less clear, given its link to ADPKD.
“Unlike the mutations in GIIβ associated with ADPLD, the phenotypic picture of ones in GIIα is less clear, given its link to ADPKD [423,424].”
From GANAB and N-Glycans Substrates Are Relevant in Human Physiology, Polycystic Pathology and Multiple Sclerosis: A Review (2022) · cites this paper as [424]
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- Authors
- Torres, V. E., Harris, P. C., & Pirson, Y.
- Affiliations
- Mayo Clinic (US)
- Cliniques Universitaires Saint-Luc (BE)
- Corresponding author
- Torres, Vicente E
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2007-04
- Volume
- 369
- Issue
- 9569
- Pages
- 1287-1301
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2143108257
- Cited by
- 1,550
- References
- 6
- Citations by year
- 2026: 63 · 2025: 70 · 2024: 72 · 2023: 80 · 2022: 80 · 2021: 82 · 2020: 94 · 2019: 87 · 2018: 99 · 2017: 92 · 2016: 72 · 2015: 101 · 2014: 97 · 2013: 77 · 2012: 74
- FWCI
- 8.42
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Digital Access to Libraries (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Keywords
- autosomal dominant polycystic kidney disease, genetic heterogeneity, genetic modifiers, familial variability, disease progression, systemic manifestations, monogenic kidney disease, clinical trials
- MeSH terms
- Animals, Cardiovascular Diseases, Female, Genotype, Humans, Kidney Failure, Chronic, Kidney Tubules, Male, Pain, Incidence, Polycystic Kidney, Autosomal Dominant, Renal Replacement Therapy
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