Abstract Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. The disease results in intracellular accumulation of cystine in all organs and tissues. Pulmonary complications targeting the respiratory system occurs commonly in adults who have not received lifelong cysteamine therapy. The respiratory insufficiency is fatal at adulthood. However, little is known about the pulmonary dysfunction in children. The study included 15 nephropathic cystinosis children to evaluate the pulmonary complications through detailed history taking, clinical examination, chest radiograph and Pulmonary function test (Impulse oscillometry {IOS}). Results Out of the cohort of 15 cystinosis patients, 13 patients did not show symptoms suggestive of chest affection. While 1 patient had recurrent Aspiration and 1 patient had history of pneumonia requiring hospital admission. All patients showed normal respiratory rate for age, normal breath sound and normal Chest X-ray finding apart from conical chest configuration. IOS done showed small airway disease in 12 patients, decreased compliance in 2 patients, while only 1patient had normal IOS. Conclusion Small airway affection was detected in most of cystinosis children by means of IOS in spite of the absence of chest manifestations and suggestive history which highlight the importance of respiratory assessment and follow up of cystinosis patients not only by history, and examination but most important pulmonary function tests.
Find this article in full text from Springer Verlag. 
Full Text Finder