Department of Otorhinolaryngology/Head and Neck Surgery, Lovisenberg Diakonale Hospital, Oslo, Norway.
Am J Med Genet A. 2012 Jun;158A(6):1320-5. doi: 10.1002/ajmg.a.35331. Epub 2012 May 14.
In our clinical experience, individuals with Treacher Collins syndrome (TCS) present with more complaints of oral dryness and higher caries activity than seen in the general population. A literature review identified no reports of salivary gland pathology and glandular dysfunction associated with TCS. Twenty-one Norwegian individuals with TCS underwent ultrasound examinations and salivary secretion tests of the submandibular and parotid glands. Intraglandular architecture patterns were analyzed and subsequently classified as either normal, dysplastic, or aplastic. The results were compared with salivary secretion rates and subjective reports of oral dryness. Ultrasound examination revealed pathological appearance of the salivary glands in approximately half (48%) of the individuals, with dysplasia identified in six (29%) participants and aplasia in four (19%). Almost all participants had co-existing low salivary secretion rates. A few individuals had low salivary secretion rates despite normal appearance of the salivary gland tissue on ultrasound examination. Subjective experience of oral dryness did not correlate significantly with low salivary secretion rates. We conclude that mild to severe salivary gland pathology and dysfunction can be associated with TCS. Further investigation is needed to clarify this association.
在我们的临床经验中，与普通人群相比，Treacher Collins 综合征（TCS）患者口腔干燥的抱怨更多，龋齿活动度更高。文献综述未发现与 TCS 相关的唾液腺病理和腺体功能障碍的报告。21 名挪威 TCS 患者接受了超声检查和颌下腺及腮腺唾液分泌测试。分析了腺体内部结构模式，并随后将其分类为正常、发育不良或发育不全。结果与唾液分泌率和口腔干燥的主观报告进行了比较。超声检查显示约一半（48%）个体的唾液腺存在病理表现，6 名（29%）参与者存在发育不良，4 名（19%）参与者存在发育不全。几乎所有参与者的唾液分泌率都较低。尽管超声检查显示唾液腺组织外观正常，但少数个体的唾液分泌率较低。口腔干燥的主观体验与低唾液分泌率无显著相关性。我们的结论是，TCS 可能与轻度至重度的唾液腺病理和功能障碍相关。需要进一步的研究来阐明这种关联。
