The DOI matches its Crossref record; 99 of the 99 references it cites were found in a registry or an index.
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases
Open accessAbstract
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), which result in significant PLD with minimal PKD. Eight genes have been associated with ADPKD ( PKD1 and PKD2 ), ADPLD ( PRKCSH , SEC63 , LRP5 , ALG8 , and SEC61B ), or both ( GANAB ). Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases. We therefore propose categorization of patients with a phenotypic and genotypic descriptor that will clarify etiology, provide prognostic information, and better describe atypical cases. In genetically defined cases, the designation would include the disease and gene names, with allelic (truncating/nontruncating) information included for PKD1 . Recent data have shown that biallelic disease including at least one weak ADPKD allele is a significant cause of symptomatic, very early onset ADPKD. Including a genic (and allelic) descriptor with the disease name will provide outcome clues, guide treatment, and aid prevalence estimates.
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PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
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Volume Progression in Polycystic Kidney Disease
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Self-citationUnified Criteria for Ultrasonographic Diagnosis of ADPKD
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Comparison of phenotypes of polycystic kidney disease types 1 and 2
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Autosomal dominant polycystic kidney disease
Cornec-Le Gall, E., Alam, A., & Perrone, R. D. (2019) · The Lancet · doi:10.1016/s0140-6736(18)32782-x · Cited by 624
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
Cornec-Le Gall, E., Olson, R. J., Besse, W., Heyer, C. M., Gainullin, V. G., Smith, J. M., Audrézet, M.-P., Hopp, K., Porath, B., Shi, B., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.013 · Cited by 312
Self-citationTherapeutic Use of mTOR Inhibitors in Renal Diseases: Advances, Drawbacks, and Challenges
Viana, S. D., Reis, F., & Alves, R. (2018) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2018/3693625 · Cited by 48
Large Deletions in GANAB and SEC63 explain 2 cases of polycystic kidney and liver disease
Wilson, E. M., Choi, J., Torres, V. E., Somlo, S., & Besse, W. (2020) · Kidney International Reports · doi:10.1016/j.ekir.2020.01.009 · Cited by 13
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Metadata
- Authors
- Cornec-Le Gall, E., Torres, V. E., & Harris, P. C.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2017-10-16
- Volume
- 29
- Issue
- 1
- Pages
- 13-23
- ISSN
- 1046-6673 (ISSN-L)
- 1533-3450
- OpenAlex
- W2766704070
- Cited by
- 406
- References
- 99
- FWCI
- 12.60
- Type
- journal article
- Language
- en
- Open access
- green
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