Open AccessLiving donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome
Author(s) -
Nassreen Abdullah,
Niall F. Davis,
John Quinn,
Ponnusamy Mohan
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2017-223376
Subject(s) - hermansky–pudlak syndrome , medicine , end stage renal disease , bleeding diathesis , oculocutaneous albinism , rare disease , cystinosis , stage (stratigraphy) , dialysis , transplantation , disease , kidney transplantation , surgery , albinism , paleontology , biochemistry , platelet , cystine , chemistry , pulmonary fibrosis , cysteine , biology , enzyme , fibrosis
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.