Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Mol Genet Metab. 2019 Apr;126(4):413-415. doi: 10.1016/j.ymgme.2019.01.011. Epub 2019 Jan 22.
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is mentioned in patients with cystinosis, but in clinical practice swallowing investigations are only performed when the patient has complaints. The aim of this study was to explore the swallowing function in patients with cystinosis by use of the Test of Mastication and Swallowing Solids (TOMASS), and to compare their performance with patients with myotonic dystrophy type 1 - a neuromuscular disease in which dysphagia for solid food is a known problem.
Twenty adult patients with cystinosis (11 men and 9 women, range 19-51 years) and 10 patients with myotonic dystrophy type 1 (5 men and 5 women, range 20-60 years) were included. All cystinosis patients were treated with cysteamine. Data of the two groups were compared with normative data using independent-samples t-tests. In case the variables were not normally distributed, the non-parametric Mann-Whitney U test was used.
There was a significant difference in the number of bites, masticatory cycles, swallows and total time between the normal values and cystinosis patients. The results of the cystinosis patients were comparable to those of the patients with myotonic dystrophy.
Adult patients with cystinosis have significant dysphagia for solid food. Clinicians treating these patients should be aware of this fact. The TOMASS can be performed easily in clinical practice to investigate whether patients with cystinosis have swallowing dysfunction. The swallowing dysfunction can now be diagnosed by use of a non-invasive, very simple, non-harmful test. It can be discussed whether this should be added to the regular care scheme of cystinosis patients in order to regularly follow-up swallowing function.
肾源性胱氨酸贮积症是一种罕见的常染色体隐性溶酶体贮积病，由 CTNS 基因突变引起。肾源性胱氨酸贮积症患者不仅患有肾脏疾病，还伴有其他全身并发症，如肌病和吞咽功能障碍。囊性纤维化患者会出现固体食物吞咽困难，但在临床实践中，只有当患者有主诉时才会进行吞咽检查。本研究旨在通过使用咀嚼和吞咽固体食物测试（TOMASS）来探索囊性纤维化患者的吞咽功能，并将其与肌强直性营养不良 1 型（一种已知存在固体食物吞咽困难的神经肌肉疾病）患者的表现进行比较。
纳入 20 例成年囊性纤维化患者（男 11 例，女 9 例，年龄 19-51 岁）和 10 例肌强直性营养不良 1 型患者（男 5 例，女 5 例，年龄 20-60 岁）。所有囊性纤维化患者均接受半胱氨酸治疗。使用独立样本 t 检验将两组数据与正常值进行比较。如果变量不符合正态分布，则使用非参数 Mann-Whitney U 检验。
在咀嚼次数、咀嚼周期数、吞咽次数和总时间方面，正常组与囊性纤维化组之间存在显著差异。囊性纤维化患者的结果与肌强直性营养不良患者的结果相当。
成年囊性纤维化患者存在明显的固体食物吞咽困难。治疗这些患者的临床医生应意识到这一事实。TOMASS 可在临床实践中轻松进行，以调查囊性纤维化患者是否存在吞咽功能障碍。现在可以使用一种非侵入性、非常简单、无害的测试来诊断吞咽功能障碍。可以讨论是否应该将其添加到囊性纤维化患者的常规护理方案中，以定期随访吞咽功能。
