Abstract
BackgroundCystinosis 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}).ResultsOut 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.ConclusionSmall 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.
Highlights
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 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})
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 by history, and examination but most important pulmonary function tests
Summary
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 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}). Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Pharyngeal muscle involvement causes swallowing abnormality, and thoracic muscle weakness impairs pulmonary function; these are causes of death in adults with cystinosis. Pulmonary function tests should be obtained in all patients with cystinosis when weakness in non-pulmonary muscles first becomes clinically evident and it must be done when they have dyspnea during exertion that cannot be fully explained by other causes.
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