Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Orphanet J Rare Dis
; 13(1): 42, 2018 03 27.
Article
en En
| MEDLINE
| ID: mdl-29580292
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. The frequency of pulmonary complaints increased over time. The leading radiographic pattern was ground-glass opacities with a rapid increase in reticular pattern and traction bronchiectasis between initial and follow-up Computer tomography (CT) in all subjects. Honeycombing and cysts were newly detectable in 3 patients. Half of the patients received a lung biopsy for diagnosis; histological patterns were cellular non-specific interstitial pneumonia, usual interstitial pneumonia-like, and desquamative interstitial pneumonia.CONCLUSIONS:
HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fibrosis Pulmonar
/
Síndrome de Hermanski-Pudlak
/
Pulmón
Límite:
Adolescent
/
Adult
/
Child
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Child, preschool
/
Female
/
Humans
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Male
Idioma:
En
Revista:
Orphanet J Rare Dis
Asunto de la revista:
MEDICINA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Alemania