Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts
Authors: Ashima Gulati, Kyongtae T. Bae, Stefan Somlo, Terry Watnick
Journal: Annals of Internal Medicine (2018)

Letters17 July 2018Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal CystsAshima Gulati, MD, Kyongtae T. Bae, MD, PhD, MBA, Stefan Somlo, MD, and Terry Watnick, MDAshima Gulati, MDYale University School of Medicine, New Haven, Connecticut (A.G., S.S.), Kyongtae T. Bae, MD, PhD, MBAUniversity of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (K.T.B.), Stefan Somlo, MDYale University School of Medicine, New Haven, Connecticut (A.G., S.S.), and Terry Watnick, MDUniversity of Maryland School of Medicine, Baltimore, Maryland (T.W.)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/L17-0644 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: The most common clinical diagnosis in adults with bilateral renal cysts, hypertension, and chronic kidney disease is autosomal-dominant polycystic kidney disease (ADPKD), which is caused by a mutation in the gene that encodes polycystin-1 (PKD1) or polycystin-2 (PKD2) (1). Establishing this diagnosis may be difficult when the severity of renal disease or presentation of extrarenal disease varies, especially when there is no family history. Other conditions can present with bilateral renal cysts in adults, such as hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome. This syndrome is caused by a mutation in the gene that encodes the α1 ...References1. Pei Y, Watnick T. Diagnosis and screening of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:140-52. [PMID: 20219617] doi:10.1053/j.ackd.2009.12.001 CrossrefMedlineGoogle Scholar2. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007;357:2687-95. [PMID: 18160688] CrossrefMedlineGoogle Scholar3. Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, et al. Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. Am J Med Genet A. 2010;152A:2550-5. [PMID: 20818663] doi:10.1002/ajmg.a.33659 CrossrefMedlineGoogle Scholar4. Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF, et al; CRISP Investigators. Volume progression in polycystic kidney disease. N Engl J Med. 2006;354:2122-30. [PMID: 16707749] CrossrefMedlineGoogle Scholar5. Song X, Haghighi A, Iliuta IA, Pei Y. Molecular diagnosis of autosomal dominant polycystic kidney disease. Expert Rev Mol Diagn. 2017;17:885-95. [PMID: 28724316] doi:10.1080/14737159.2017.1358088 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Yale University School of Medicine, New Haven, Connecticut (A.G., S.S.)University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (K.T.B.)University of Maryland School of Medicine, Baltimore, Maryland (T.W.)Acknowledgment: The authors thank the patients for their participation in the study.Financial Support: From the Yale Center for Mendelian Genomics (National Institutes of Health grant U54 HG006504). This work was supported by the American Society of Nephrology Ben J Lipps fellowship (2015 to 2017), the Polycystic Kidney Disease Foundation fellowship (2017 to 2019) (Dr. Gulati), and National Institutes of Health grants for the George M. O'Brien Kidney Center at Yale (P30 DK079310 and DK100592) (Dr. Somlo) and the Baltimore PKD Center (P30 DK090868 and DK095036) (Dr. Watnick).Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L17-0644.This article was published at Annals.org on 27 March 2018. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byInherited glomerular diseases in the gilded age of genomic advancementsCollagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKDRecurrent Renal Cysts in a Transplanted KidneyMeyeon Park, MD and Robert L. Nussbaum, MDA Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan 17 July 2018Volume 169, Issue 2Page: 130-131KeywordsAneurysmsFellowshipsGenetic diseasesGenomicsHypertensionKidneysMagnetic resonance imagingMusclesPolycystic kidney diseaseRenal diseases ePublished: 27 March 2018 Issue Published: 17 July 2018 Copyright & PermissionsCopyright © 2018 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...