Swallowing dysfunction in 101 patients with nephropathic cystinosis - Benefit of long-term cysteamine therapy
Swallowing dysfunction in 101 patients with nephropathic cystinosis - Benefit of long-term cysteamine therapy
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DOI：
10.1097/01.md.0000164204.00159.d4
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发表时间：
2005-05-01
期刊：
影响因子：
1.6
通讯作者：
Gahl, WA
中科院分区：
文献类型：
--
作者：
Sonies, BC;Almajid, P;Gahl, WA
肾病型胱氨酸病是一种罕见的常染色体隐性溶酶体贮积症，由编码溶酶体膜中胱氨酸转运体的CTNS基因突变引起。受影响的患者细胞中胱氨酸的储存量是正常人的50-100倍，并出现肾小管和肾小球疾病、生长迟缓、畏光和其他全身并发症，包括肌病和吞咽功能障碍。使用影像透视和超声检查，我们评估了1987年至2004年间在美国国立卫生研究院临床中心最近入院的101例肾病型胱氨酸病患者的吞咽功能。这些患者的年龄从6岁到45岁不等；超过一半的人有严重的吞咽困难。吞钡检查显示，24%、51%和73%的患者口腔、咽部和食道吞咽阶段异常。吞咽各阶段出现功能障碍的频率随年龄增长而增加。吞咽严重程度评分（衡量钡吞咽功能障碍）和口腔肌肉综合评分（反映声音力量、口腔面部运动、舌头和嘴唇功能）随着患者未接受半胱胺治疗的年数而增加（即恶化），半胱胺是胱氨酸病中选择的消耗胱氨酸的药物。严重程度评分随着半胱胺治疗年限的增加而降低。吞咽严重程度评分与肌肉疾病的严重程度直接相关，但与肾病型胱氨酸病患者中常见的57-kb CTNS缺失的存在与否无关。我们得出结论，胱氨酸病患者的吞咽功能障碍存在致命误吸的风险，与肌肉萎缩的存在相关，并且根据横断面数据，随着年龄和未接受半胱胺治疗的年数的增加，吞咽功能障碍的发生频率增加。对于移植前和移植后的胱氨酸病患者，应考虑使用半胱胺消耗半胱氨酸疗法。
Nephropathic cystinosis is a rare, autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene that codes for a cystine transporter in the lysosomal membrane. Affected patients store 50-100 times the normal amounts of cystine in their cells, and suffer renal tubular and glomerular disease, growth retardation, photophobia, and other systemic complications, including a myopathy and swallowing dysfunction. Using video-fluoroscopy and ultrasound examinations, we assessed the swallowing function of 101 patients with nephropathic cystinosis on their most recent admission to the National Institutes of Health Clinical Center between 1987 and 2004. These patients ranged in age from 6 to 45 years; more than half had significant complaints of swallowing difficulty. On examination of barium swallow, the oral, pharyngeal, and esophageal phases of swallowing were abnormal in 24%, 51%, and 73% of patients, respectively. The frequency of dysfunction increased with age for each phase of swallowing. Both the Swallowing Severity Score (a measure of dysfunction on barium swallow) and the Oral Muscle Composite Score (a reflection of vocal strength, oral-facial movement, and tongue and lip function) increased (that is, worsened) with the number of years that a patient was not receiving treatment with cysteamine, the cystine-depleting agent of choice in cystinosis. The severity scores decreased with the number of years on cysteamine therapy. The Swallowing Severity Score varied directly with the severity of muscle disease, but was not correlated with the presence or absence of the 57-kb CTNS deletion that commonly occurs in nephropathic cystinosis patients. We conclude that swallowing dysfunction in cystinosis presents a risk of fatal aspiration, correlates with the presence of muscle atrophy, and, based on cross-sectional data, increases in frequency with age and number of years without cysteamine treatment. Cystine-depleting therapy with cysteamine should be considered the treatment of choice for both pre- and posttransplant cystinosis patients.