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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.


Subject(s)
Hermanski-Pudlak Syndrome , Kidney Failure, Chronic/diagnosis , Kidney Transplantation , Diagnosis, Differential , Humans , Kidney Failure, Chronic/therapy , Male , Middle Aged
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