儿童类脂质蛋白沉积症中吞咽困难及口腔受累与生长和营养状况的关联：一项前瞻性横断面研究
Association of Dysphagia and Oral Involvement with Growth and Nutritional Status in Pediatric Lipoid Proteinosis: A Prospective Cross-Sectional Study.
文献信息
| PMID | 42943010 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Demet Teker-Duztas |
| 作者单位 | Department of Pediatric Gastroenterology, Ankara Etlik City Hospital, 06170 Ankara, Türkiye. |
| 期刊 | Nutrients |
| SCI 分区 | Q1 |
| IF | 6.5 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 咽喉科 |
中文摘要
背景/目的： 类脂质蛋白沉积症（LP）是一种罕见的常染色体隐性遗传性皮肤病，以口腔和舌部受累为特征，常伴有吞咽困难和复发性口腔溃疡。这些临床表现与营养状况或生长之间的关系尚未明确。本研究评估了LP患儿营养、生长及微量营养素状况，并探讨其与吞咽困难、口腔溃疡频率及复合口腔受累评分的关联。
方法： 这项前瞻性、横断面、单中心研究纳入30例LP患儿。收集人体测量学指标、实验室结果以及有关口腔受累和吞咽困难的临床数据。根据张口受限、舌运动受限、厚舌或木样舌的存在以及活动性口腔溃疡，计算研究专用的复合口腔受累评分（范围：0-4）。
结果： 平均年龄为8.44 ± 4.97岁；66.7%为男性，所有患者均有父母近亲婚配。平均HFA和WFH/BMI z评分分别为-1.44 ± 1.07和-0.55 ± 1.28；生长迟缓和消瘦的发生率分别为26.7%和6.7%。活动性口腔溃疡和吞咽困难的发生率分别为70.0%和60.0%。缺铁性贫血（33.3%）和维生素D缺乏（16.7%）是最常见的缺乏症。吞咽困难患者的HFA z评分较低（p < 0.001；Cohen's d = 1.91），经Holm校正后仍具有显著性。吞咽困难与生长迟缓之间的关联经校正后不再具有显著性，且未发现吞咽困难、口腔溃疡频率或复合口腔受累评分与其他指标存在其他关联。
结论： 在儿童LP中，吞咽困难与较低的HFA z评分相关，而口腔溃疡频率和复合口腔受累则无此关联。这些探索性发现提示随访期间应评估吞咽功能；需要采用标准化吞咽评估的更大规模多中心前瞻性研究。
英文摘要
BACKGROUND/OBJECTIVES: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by oral and lingual involvement, frequently accompanied by dysphagia and recurrent oral ulcers. The relationships between these clinical manifestations and nutritional status or growth have not been clearly established. This study evaluated nutritional, growth, and micronutrient statuses in pediatric patients with LP and investigated their associations with dysphagia, oral ulcer frequency, and a composite oral involvement score.
METHODS: This prospective, cross-sectional, single-center study enrolled 30 pediatric patients with LP. Anthropometric measurements, laboratory results, and clinical data regarding oral involvement and dysphagia were collected. A study-specific composite oral involvement score (range: 0-4) was calculated based on restricted mouth opening, restricted tongue movement, presence of a thick or woody tongue, and active oral ulcers.
RESULTS: Mean age was 8.44 ± 4.97 years; 66.7% were male, and all had parental consanguinity. Mean HFA and WFH/BMI z-scores were -1.44 ± 1.07 and -0.55 ± 1.28; stunting and wasting occurred in 26.7% and 6.7%. Active oral ulcers and dysphagia were present in 70.0% and 60.0%. Iron-deficiency anemia (33.3%) and vitamin D deficiency (16.7%) were the most common deficiencies. Patients with dysphagia had lower HFA z-scores (p < 0.001; Cohen's d = 1.91), which remained significant after Holm correction. The association between dysphagia and stunting did not remain significant after correction, and no other associations were found with dysphagia, oral ulcer frequency, or the composite oral involvement score.
CONCLUSIONS: Dysphagia was associated with lower HFA z-scores in pediatric LP, whereas oral ulcer frequency and composite oral involvement were not. These exploratory findings suggest that swallowing function should be assessed during follow-up; larger multicenter prospective studies with standardized swallowing assessments are needed.