PT  - JOURNAL ARTICLE
AU  - Abdullah, Nassreen
AU  - Davis, Niall F
AU  - Quinn, John
AU  - Mohan, Ponnusamy
TI  - Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome
AID  - 10.1136/bcr-2017-223376
DP  - 2018 Oct 12
TA  - BMJ Case Reports
PG  - bcr-2017-223376
VI  - 2018
4099  - http://casereports.bmj.com/content/2018/bcr-2017-223376.short
4100  - http://casereports.bmj.com/content/2018/bcr-2017-223376.full
AB  - 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.