Impairment of Renal Function in Hermansky-Pudlak Syndrome.

ABSTRACT:

Introduction

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. The genetic types of HPS are associated with a spectrum of multisystemic clinical manifestations. Phenotypic features of HPS type 1 (HPS-1) or HPS-4, which are associated with defects in biogenesis of lysosome-related organelles complex-3 (BLOC-3), are generally more severe than those of HPS-3, HPS-5, or HPS-6, which are associated with defects in BLOC-2. A paucity of information is available about renal impairment in HPS. The objective of this study is to expand the understanding of kidney disease in HPS.

Methods

Medical records and clinical data of patients with HPS evaluated at the National Institutes of Health Clinical

SUBMITTER: Yokoyama T 

PROVIDER: S-EPMC11810587 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature