Kolho Kaija-Leena, Saarinen Riitta, Paju Annukka, Stenman Jacob, Stenman Ulf-Håkan, Pitkäranta Anne
Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland.
Acta Paediatr. 2005 Nov;94(11):1566-70. doi: 10.1080/08035250505100399.
We inquired about the possibility of a familial trend in juvenile parotitis and evaluated the role of SPINK1 mutations in juvenile parotitis.
The clinical records of all children admitted to the Helsinki University Hospital during 1995 to May 2003 because of swelling in the parotid gland were reviewed. A questionnaire on possible recurrences and on familial cases was mailed. As disturbances in trypsin inhibition might be involved in the pathogenesis, we assessed the SPINK1 gene encoding for Kazal-type trypsin inhibitor in voluntary patients. The study group comprised 133 children (boys 82 girls 51) with juvenile parotitis. The median age at presentation of first symptoms was 6.0 y (range 1-19 y).
Recurrent symptoms in the parotid gland were common (57%), and 29% of the children (38/133) had suffered from four or more episodes. A young age at the first episode of symptoms increased the likelihood of recurrences (p<0.0001). Familial cases of parotid swelling were common (22%; response rate 67%). A total of 47 patients (35%) agreed to testing for SPINK1 status. Four children had a major mutation (N34S or P55S), corresponding to an 8.5% (4/47) prevalence, but this was not different from the controls (5%).
It is likely that inherited factors are involved in the manifestation of juvenile parotitis in a subset of patients. It is tempting to speculate that disturbed proteolytic balance may play a role in the development of symptoms.
我们探究了青少年腮腺炎存在家族性倾向的可能性，并评估了SPINK1突变在青少年腮腺炎中的作用。
回顾了1995年至2003年5月期间因腮腺肿胀入住赫尔辛基大学医院的所有儿童的临床记录。邮寄了一份关于可能复发情况和家族病例的问卷。由于胰蛋白酶抑制功能紊乱可能参与发病机制，我们对自愿参与的患者评估了编码Kazal型胰蛋白酶抑制剂的SPINK1基因。研究组包括133名患有青少年腮腺炎的儿童（男孩82名，女孩51名）。首次出现症状时的中位年龄为6.0岁（范围1 - 19岁）。
腮腺反复出现症状很常见（57%），29%的儿童（38/133）经历过四次或更多次发作。首次出现症状时年龄较小会增加复发的可能性（p<0.0001）。家族性腮腺肿胀病例很常见（22%；回复率67%）。共有47名患者（35%）同意进行SPINK1状态检测。4名儿童有主要突变（N34S或P55S），患病率为8.5%（4/47），但与对照组（5%）无差异。
在一部分患者中，遗传因素可能参与青少年腮腺炎的表现。推测蛋白水解平衡紊乱可能在症状发展中起作用是很诱人的。
