Urinary tract endometriosis masquerading as a renal mass in hepatocyte nuclear factor-1 beta gene mutation

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This case report describes a patient whose urinary tract endometriosis presented as a renal mass, highlighting a potential diagnostic challenge in the context of hepatocyte nuclear factor-1 beta gene mutations.

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This case report describes urinary tract endometriosis that presented as a renal mass in a patient with a hepatocyte nuclear factor-1 beta (HNF-1β) gene mutation, using clinical evaluation to frame the diagnostic dilemma. The authors report that the presumed renal mass was ultimately attributed to endometriosis in the urinary tract, despite the patient’s genetic background that is associated with renal disease. A key caveat is that, as a single-case report, the findings cannot establish frequency or causal inference beyond this individual presentation. Relevance to endometriosis: the paper is centrally about endometriosis — it focuses on urinary tract endometriosis masquerading as a renal mass, with the context of an HNF-1β gene mutation.

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References Ponticelli C, Graziani G, Montanari E (2010) Ureteral endometriosis: a rare and underdiagnosed cause of kidney dysfunction. Nephron Clin Pract 114(2):c89–c94 Kato N, Sasou S-I, Motoyama T (2006) Expression of hepatocyte nuclear factor-1beta (HNF-1beta) in clear cell tumors and endometriosis of the ovary. Mod Pathol 19(1):83–89 Edghill EL, Bingham C, Ellard S, Hattersley AT (2006) Mutations in hepatocyte nuclear factor-1β and their related phenotypes. J Med Genet 43(1):84–90 Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2015) HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum. Nat Rev Nephrol 11(2):102–112 Ravine D, Gibson RN, Donlan J, Sheffield LJ (1993) An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am J Kidney Dis 22(6):803–807 Köttgen A, Cornec-Le Gall E, Halbritter J et al (2022) Genetics in chronic kidney disease: conclusions from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int 101(6):1126–1141 Yu D-D, Guo S-W, Jing Y-Y, Dong Y-L, Wei L-X (2015) A review on hepatocyte nuclear factor-1beta and tumor. Cell Biosci 5(1):58 Rebouissou S, Vasiliu V, Thomas C et al (2005) Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas. Hum Mol Genet 14(5):603–614 Garje R, Elhag D, Yasin HA, Acharya L, Vaena D, Dahmoush L (2021) Comprehensive review of chromophobe renal cell carcinoma. Crit Rev Oncol Hematol 160:103287 Funding There were no specific funding sources relevant to this manuscript. Author information Authors and Affiliations Corresponding author Ethics declarations Conflict of interest The authors have no conflict of interest to declare. Additional information Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions About this article Cite this article Lee, T.L., Ho, H.S.S. & Lim, C.C. Urinary tract endometriosis masquerading as a renal mass in hepatocyte nuclear factor-1 beta gene mutation. Int Urol Nephrol 55, 1383–1384 (2023). https://doi.org/10.1007/s11255-022-03411-1 Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s11255-022-03411-1

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endometriosis

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Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis

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