TY - JOUR T1 - Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome JF - BMJ Case Reports DO - 10.1136/bcr-2017-223376 VL - 2018 SP - bcr-2017-223376 AU - Nassreen Abdullah AU - Niall F Davis AU - John Quinn AU - Ponnusamy Mohan Y1 - 2018/10/12 UR - http://casereports.bmj.com/content/2018/bcr-2017-223376.abstract N2 - Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterised by oculocutaneous albinism, bleeding diathesis and end-stage renal disease (ESRD), due to interstitial deposition of ceroid lipofuscin. Renal transplantation is potentially a definitive treatment option for patients with ESRD due to HPS. Herein, we describe the case of a 55-year-old male patient with HPS that successfully underwent a living donor kidney transplant. We also emphasise the importance of multidisciplinary input during the preoperative, perioperative and postoperative phases in this high-risk clinical scenario. ER -