Zusammenfassung
Wir berichten über den seltenen Fall von bilateralen Nierentumoren im Rahmen eines Birt-Hogg-Dubé-Syndroms (BHD). Hierbei handelt es sich um eine autosomal-dominant vererbbare Erkrankung, die durch multiple Nierentumoren unterschiedlicher Histologie, charakteristische papulöse Hautveränderungen und Lungenzysten mit Spontanpneumothoraces charakterisiert ist. Bis heute sind ca. 50 BHD-Familien beschrieben worden. Therapie der Wahl auf urologischem Fachgebiet ist die organerhaltende Nierentumorexzision. Aufgrund von Rezidiven in bereits voroperierten Restnieren sowie systemischer Tumorprogression ist eine regelmäßige Nachsorge notwendig. Enge Verwandte sollten frühzeitig gescreent werden.
Abstract
We report on a rare case of bilateral oncocytic kidney tumors in a patient with Birt-Hogg-Dubé syndrome (BHD). BHD is an autosomal inherited cancer syndrome associated with multiple kidney tumors, benign cutaneous tumors, and pulmonary cysts with spontaneous pneumothorax. To date about 50 BHD families have been described. Patients are best treated with nephron-sparing surgery. Close follow-up is mandatory because recurrence in previously operated kidneys and metastatic tumor progression can occur. Family members at risk should also early be screened for BHD.
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Westermann, D., Rüdiger, T., Lohe, B. et al. Birt-Hogg-Dubé-Syndrom. Urologe 49, 1527–1531 (2010). https://doi.org/10.1007/s00120-010-2427-0
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DOI: https://doi.org/10.1007/s00120-010-2427-0