Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

ABSTRACT:

Background

Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.

Methods

Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded.

Results

Pulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumothorax, and 4 developed scoliosis

SUBMITTER: Hengst M 

PROVIDER: S-EPMC5870397 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature