New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report
Abstract
:1. Introduction
2. Case Presentation
2.1. Patient A
2.2. Patient B
2.3. Clinical Findings
2.4. Genetic Results
3. Discussion
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
- Chapman, A.B.; Devuyst, O.; Eckardt, K.-U.; Gansevoort, R.T.; Harris, T.; Horie, S.; Kasiske, B.L.; Odland, D.; Pei, Y.; Perrone, R.D.; et al. Autosomal-dominant polycystic kidney disease (ADPKD): Executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015, 88, 17–27. [Google Scholar] [CrossRef] [PubMed]
- Torres, V.E.; Harris, P.C.; Pirson, Y. Autosomal dominant polycystic kidney disease. Lancet 2007, 369, 1287–1301. [Google Scholar] [CrossRef] [PubMed]
- Harris, P.C.; Torres, V.E. Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. J. Clin. Investig. 2014, 124, 2315–2324. [Google Scholar] [CrossRef] [PubMed]
- Harris, P.C.; Torres, V.E. Polycystic kidney disease. Annu. Rev. Med. 2009, 60, 321–337. [Google Scholar] [CrossRef] [PubMed]
- Wilson, P.D. Polycystic kidney disease. N. Engl. J. Med. 2004, 350, 151–164. [Google Scholar] [CrossRef]
- Rossetti, S.; Consugar, M.B.; Chapman, A.B.; Torres, V.E.; Guay-Woodford, L.M.; Grantham, J.J.; Bennett, W.M.; Meyers, C.M.; Walker, D.L.; Bae, K.; et al. Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease. J. Am. Soc. Nephrol. 2007, 18, 2143–2160. [Google Scholar] [CrossRef]
- Gall, E.C.-L.; Audrézet, M.-P.; Chen, J.-M.; Hourmant, M.; Morin, M.-P.; Perrichot, R.; Charasse, C.; Whebe, B.; Renaudineau, E.; Jousset, P.; et al. Type of PKD1 Mutation Influences Renal Outcome in ADPKD. J. Am. Soc. Nephrol. 2013, 24, 1006–1013. [Google Scholar] [CrossRef]
- Chebib, F.T.; Torres, V.E. Assessing Risk of Rapid Progression in Autosomal Dominant Polycystic Kidney Disease and Special Considerations for Disease-Modifying Therapy. Am. J. Kidney Dis. 2021, 78, 282–292. [Google Scholar] [CrossRef]
- Audrézet, M.-P.; Gall, E.C.-L.; Chen, J.-M.; Redon, S.; Quéré, I.; Creff, J.; Bénech, C.; Maestri, S.; Le Meur, Y.; Férec, C. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum. Mutat. 2012, 33, 1239–1250. [Google Scholar] [CrossRef]
- Harris, P.C.; Rossetti, S. Determinants of Renal Disease Variability in ADPKD. Adv. Chronic Kidney Dis. 2010, 17, 131–139. [Google Scholar] [CrossRef]
- Parfrey, P.S.; Bear, J.C.; Morgan, J.; Cramer, B.C.; McManamon, P.J.; Gault, M.H.; Churchill, D.N.; Singh, M.; Hewitt, R.; Somlo, S.; et al. The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease. N. Engl. J. Med. 1990, 323, 1085–1090. [Google Scholar] [CrossRef] [PubMed]
- Torra, R.; Badenas, C.; Darnell, A.; Nicolau, C.; Volpini, V.; Revert, L.; Estivill, X. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J. Am. Soc. Nephrol. 1996, 7, 2142–2151. [Google Scholar] [CrossRef]
- Harris, P.C.; Bae, K.T.; Rossetti, S.; Torres, V.E.; Grantham, J.J.; Chapman, A.B.; Guay-Woodford, L.M.; King, B.F.; Wetzel, L.H.; Baumgarten, D.A.; et al. Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease. J. Am. Soc. Nephrol. 2006, 17, 3013–3019. [Google Scholar] [CrossRef]
- Harris, P.C.; Rossetti, S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat. Rev. Nephrol. 2010, 6, 197–206. [Google Scholar] [CrossRef]
- Hateboer, N.; Dijk, M.A.V.; Bogdanova, N.; Coto, E.; Saggar-Malik, A.K.; Millan, J.L.S.; Torra, R.; Breuning, M.; Ravine, D. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999, 353, 103–107. [Google Scholar] [CrossRef] [PubMed]
- Rossetti, S.; Kubly, V.J.; Consugar, M.B.; Hopp, K.; Roy, S.; Horsley, S.W.; Chauveau, D.; Rees, L.; Barratt, T.M.; Hoff, W.G.V.; et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009, 75, 848–855. [Google Scholar] [CrossRef] [PubMed]
- Rossetti, S.; Burton, S.; Strmecki, L.; Pond, G.R.; Millán, J.L.S.; Zerres, K.; Barratt, T.M.; Ozen, S.; Torres, V.E.; Bergstralh, E.J.; et al. The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease. J. Am. Soc. Nephrol. 2002, 13, 1230–1237. [Google Scholar] [CrossRef]
- Heyer, C.M.; Sundsbak, J.L.; Abebe, K.Z.; Chapman, A.B.; Torres, V.E.; Grantham, J.J.; Bae, K.T.; Schrier, R.W.; Perrone, R.D.; Braun, W.E.; et al. Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease. J. Am. Soc. Nephrol. 2016, 27, 2872–2884. [Google Scholar] [CrossRef]
- Cornec-Le Gall, E.; Audrézet, M.P.; Rousseau, A.; Hourmant, M.; Renaudineau, E.; Charasse, C.; Morin, M.P.; Moal, M.C.; Dantal, J.; Wehbe, B.; et al. The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. J. Am. Soc. Nephrol. 2016, 27, 942–951. [Google Scholar] [CrossRef]
- Pei, Y.; Obaji, J.; Dupuis, A.; Paterson, A.D.; Magistroni, R.; Dicks, E.; Parfrey, P.; Cramer, B.; Coto, E.; Torra, R.; et al. Unified Criteria for Ultrasonographic Diagnosis of ADPKD. J. Am. Soc. Nephrol. 2009, 20, 205–212. [Google Scholar] [CrossRef]
- Somlo, S.; Ehrlich, B. Human disease: Calcium signaling in polycystic kidney disease. Curr. Biol. 2001, 11, R356–R360. [Google Scholar] [CrossRef] [PubMed]
- Genovese, G.; Friedman, D.J.; Ross, M.D.; Lecordier, L.; Uzureau, P.; Freedman, B.I.; Bowden, D.W.; Langefeld, C.D.; Oleksyk, T.K.; Knob, A.L.U.; et al. Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans. Science 2010, 329, 841–845. [Google Scholar] [CrossRef] [PubMed]
- Parsa, A.; Kao, W.L.; Xie, D.; Astor, B.C.; Li, M.; Hsu, C.Y.; Feldman, H.I.; Parekh, R.S.; Kusek, J.W.; Greene, T.H.; et al. APOL1 risk variants, race, and progression of chronic kidney disease. N. Engl. J. Med. 2013, 369, 2183–2196. [Google Scholar] [CrossRef] [PubMed]
- Bais, T.; Gansevoort, R.T.; Meijer, E. Drugs in Clinical Development to Treat Autosomal Dominant Polycystic Kidney Disease. Drugs 2022, 82, 1095–1115. [Google Scholar] [CrossRef]
- McEwan, P.; Wilton, H.B.; Ong, A.C.M.; Ørskov, B.; Sandford, R.; Scolari, F.; Cabrera, M.-C.V.; Walz, G.; O’reilly, K.; Robinson, P. A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): The ADPKD Outcomes Model. BMC Nephrol. 2018, 19, 37. [Google Scholar] [CrossRef]
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Rai, V.; Singh, M.; Holthoff, J.H. New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report. Genes 2024, 15, 1262. https://doi.org/10.3390/genes15101262
Rai V, Singh M, Holthoff JH. New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report. Genes. 2024; 15(10):1262. https://doi.org/10.3390/genes15101262
Chicago/Turabian StyleRai, Vanya, Manisha Singh, and Joseph H. Holthoff. 2024. "New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report" Genes 15, no. 10: 1262. https://doi.org/10.3390/genes15101262
APA StyleRai, V., Singh, M., & Holthoff, J. H. (2024). New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report. Genes, 15(10), 1262. https://doi.org/10.3390/genes15101262