Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease

Abstract

Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive inherited diseases. Most patients exhibit albinism with nystagmus, visual acuity loss, and a platelet storage pool deficiency with bleeding diathesis. The severity and variety of other clinical features depend on the HPS subtype. We report a 24-year-old male with end-stage renal disease (ESRD) of unknown etiology and a history of oculocutaneous albinism and bleeding diathesis. Two of his siblings also had oculocutaneous albinism. The diagnostic workup for renal impairment was unremarkable. Further genetic testing revealed a homozygous novel nonsense mutation in the HPS6 gene. Additionally, a heterozygous variant of uncertain significance was identified in the HPS5 gene. Renal failure is an uncommon clinical feature of HPS. To our knowledge, this is the first case that describes the association of HPS types 5 and 6 with renal failure.

Keywords: end-stage renal disease (esrd); hermansky-pudlak syndrome; inherited bleeding diathesis; oculocutaneous albinism; renal failure.