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

Nassreen Abdullah | Zendy; Niall F. Davis | Zendy; John Quinn | Zendy; Ponnusamy Mohan | Zendy

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Living 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.

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