Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome. (12th October 2018)

• Record Type: Journal Article
• Authors: Abdullah, Nassreen; Davis, Niall F; Quinn, John; Mohan, Ponnusamy
• Is Part Of: BMJ case reports. Volume 2018
• Publication Date: 2018-10-12
• Subjects: renal transplantation -- transplantation -- haematology (incl blood transfusion) -- urological surgery; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2017-223376
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.