Tracheobronchial stents in mucopolysaccharidosis.

Introduction: The mucopolysaccharidoses are a group of hereditary disorders pathologically characterized by tissue accumulation of glycosaminoglycans due to deficient lysosomal metabolism which often leads to progressive airway stenosis and respiratory insufficiency. Relentless and treatment-refractory narrowing of the lower airways with ensuing severe limitation of quality of life is a challenging problem in mucopolysaccharidoses.

Case Reports: We report 2 cases of MPS (Hunter's and Maroteaux-Lamy's syndrome resp.

Endobronchial lesions caused by nontuberculous mycobacteria in apparently healthy pediatric patients.

Pulmonary disease caused by nontuberculous mycobacteria in healthy children is rare, and its pathogenesis is unknown in most cases and standardized treatment is lacking. Here, we report various endobronchial manifestations in 5 patients including hitherto undescribed diffuse tracheobronchial granulomas in 2 patients. Bronchoscopic debulking was performed in all patients and tuberculostatic treatment in 4.

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).

MPI-CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing enteropathy, hepatopathy, and thrombotic events, whereas neurologic development remains unaffected. Dietary supplementation of mannose can reverse clinical symptoms by entering the N-glycosylation pathway downstream of MPI. When oral intake of mannose in patients with MPI-CDG is not possible, e.

Whole-lung lavage in infants and children with pulmonary alveolar proteinosis.

Background: Pulmonary alveolar proteinosis (PAP) is a rare alveolar filling syndrome where the mainstay of treatment is therapeutic whole-lung lavage (WLL). WLL techniques used in adults have to be modified for children because of their small-diameter airways.

Aim: To describe a technique for WLL adapted for small children.

Risk factors for morbidity and mortality in pediatric home mechanical ventilation.

Background: Home mechanical ventilation (HMV) is increasingly used in children with chronic respiratory insufficiency, but data on incidence and type of adverse events are limited.

Setting: Pediatric HMV program at a tertiary university hospital.

Methods: The authors retrospectively analyzed the type and incidence of severe emergencies in a mixed pediatric HMV program.

The role of polymorphisms in ADAM33, a disintegrin and metalloprotease 33, in childhood asthma and lung function in two German populations.

Background: ADAM33, the first asthma candidate gene identified by positional cloning, may be associated with childhood asthma, lung function decline and bronchial hyperresponsiveness. However, replication results have been inconclusive in smaller previous study populations probably due to inconsistencies in asthma phenotypes or yet unknown environmental influences. Thus, we tried to further elucidate the role of ADAM33 polymorphisms (SNPs) in a genetic analysis of German case control and longitudinal populations.