1.
Breast J
; 25(1): 166-168, 2019 01.
Article
in English
| MEDLINE
| ID: mdl-30659734
2.
BMJ Case Rep
; 20182018 Oct 12.
Article
in English
| MEDLINE
| ID: mdl-30317187
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.