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}). 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. 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.

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胱氨酸病儿童肺功能障碍：单中心研究，原创文章

胱氨酸病是一种罕见的常染色体隐性遗传疾病，涉及由于膜转运蛋白胱氨酸蛋白酶缺陷而导致氨基酸胱氨酸的溶酶体储存。该疾病导致胱氨酸在所有器官和组织中的细胞内积累。针对呼吸系统的肺部并发症通常发生在未接受终生半胱胺治疗的成年人身上。呼吸功能不全在成年期是致命的。然而，对儿童肺功能障碍知之甚少。该研究包括 15 名肾病性胱氨酸病儿童，通过详细的病史采集、临床检查、胸片和肺功能测试（脉冲示波法 {IOS}）来评估肺部并发症。在 15 名胱氨酸病患者的队列中，13 名患者没有出现提示胸部感染的症状。1 例患者反复吸入，1 例患者有肺炎病史，需住院治疗。所有患者均显示正常的年龄呼吸频率、正常的呼吸音和正常的胸部 X 线检查，除了锥形胸部结构。IOS 显示 12 名患者出现小气道疾病，2 名患者依从性下降，而只有 1 名患者 IOS 正常。尽管没有胸部表现和提示性病史，但大多数胱氨酸病儿童通过 IOS 检测到小气道感染测试。正常呼吸音和正常的胸部 X 线检查，除了锥形胸部结构。IOS 显示 12 名患者出现小气道疾病，2 名患者依从性下降，而只有 1 名患者 IOS 正常。尽管没有胸部表现和提示性病史，但大多数胱氨酸病儿童通过 IOS 检测到小气道感染测试。正常呼吸音和正常的胸部 X 线检查，除了锥形胸部结构。IOS 显示 12 名患者出现小气道疾病，2 名患者依从性下降，而只有 1 名患者 IOS 正常。尽管没有胸部表现和提示性病史，但大多数胱氨酸病儿童通过 IOS 检测到小气道感染测试。