Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.

Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid and the synthesis of an aberrant, larger sized protein of around 28 kDa.

Respiratory allergy in Mexican patients with cystic fibrosis.

Background: the purpose of this study was to investigate the presence of respiratory allergy in 30 Mexican patients bearing cystic fibrosis (CF).

Methods And Results: all patients completed a clinical history, had a physical examination, total serum IgE, nasal and blood eosinophils determinations and evaluation of skin prick tests for 36 allergens. In 26.