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Case Reports
. 2018 Oct 12:2018:bcr2017223376.
doi: 10.1136/bcr-2017-223376.

Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome

Nassreen Abdullah  1   2 , Niall F Davis  1   2 , John Quinn  3 , Ponnusamy Mohan  1   2
Affiliations
Case Reports

Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome

Nassreen Abdullah et al. BMJ Case Rep. .

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.

Keywords: haematology (incl blood transfusion); renal transplantation; transplantation; urological surgery.

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Conflict of interest statement

Competing interests: None declared.

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