Recurrent Renal Cysts in a Transplanted Kidney (2018)

Letters6 November 2018Recurrent Renal Cysts in a Transplanted KidneyMeyeon Park, MD and Robert L. Nussbaum, MDMeyeon Park, MDUniversity of California, San Francisco, San Francisco, California (M.P.)Search for more papers by this author and Robert L. Nussbaum, MDInvitae and University of California, San Francisco, San Francisco, California (R.L.N.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L18-0177 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Clinicians often diagnose patients who have bilateral renal cysts, hypertension, and chronic kidney disease with autosomal dominant polycystic kidney disease (ADPKD), which is usually correct in this setting (1).Objective: To show how genomic testing can identify alternative and less common diagnoses that have important consequences for treatment and management.Case Report: In 2016, we evaluated a 69-year-old woman who had been diagnosed with ADPKD in 1975 when she was found to have bilateral renal cysts and hypertension. Family history included a diagnosis of ADPKD in her paternal aunt and first cousin, but her father had no known kidney ...References1. Gulati A, Bae KT, Somlo S, Watnick T. Genomic analysis to avoid misdiagnosis of adults with bilateral renal cysts. Ann Intern Med. 2018. [PMID: 29582070]. doi:10.7326/L17-0644 LinkGoogle Scholar2. Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al; European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009;10:1199-206. [PMID: 19959076] doi:10.1016/S1470-2045(09)70188-3 CrossrefMedlineGoogle Scholar3. Keith DS, Torres VE, King BF, Zincki H, Farrow GM. Renal cell carcinoma in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1994;4:1661-9. [PMID: 8011975] CrossrefMedlineGoogle Scholar4. Schmidt LS, Linehan WM. FLCN: the causative gene for Birt-Hogg-Dubé syndrome. Gene. 2018;640:28-42. [PMID: 28970150] doi:10.1016/j.gene.2017.09.044 CrossrefMedlineGoogle Scholar5. Baba M, Furihata M, Hong SB, Tessarollo L, Haines DC, Southon E, et al. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst. 2008;100:140-54. [PMID: 18182616] doi:10.1093/jnci/djm288 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: University of California, San Francisco, San Francisco, California (M.P.)Invitae and University of California, San Francisco, San Francisco, California (R.L.N.)Acknowledgment: The authors thank the patient for sharing her information.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L18-0177.This article was published at Annals.org on 3 July 2018. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byDevelopment of renal cysts in a transplanted kidney 6 November 2018Volume 169, Issue 9Page: 657-658KeywordsDisclosureGenetic testingHypertensionKidneysProteinsRenal cancerRenal cell carcinomaRenal diseasesRenal transplantationUltrasound imaging ePublished: 3 July 2018 Issue Published: 6 November 2018 Copyright & PermissionsCopyright © 2018 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...