Sivabalan Somu, Mahadevan Shriraam, Srinath M V
Department of Pediatric Pulmonology, Sundaram Medical Foundation, Dr Rangarajan Memorial Hospital, Shanthi Colony, IV Avenue, Annanagar, Chennai, 600 040, Tamil Nadu, India,
Indian J Pediatr. 2014 Apr;81(4):394-6. doi: 10.1007/s12098-013-1201-x. Epub 2013 Oct 1.
Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is characterized by the presence of at least two out of three clinical features, which include chronic mucocutaneous candidiasis (CMC), Addison's disease and hypoparathyroidism. The authors' present an one and a half year old girl with recurrent oral thrush who presented with generalised afebrile seizure. Evaluation revealed severe hypocalcemia with low parathormone and normal vitamin D level consistent with hypoparathyroidism. In view of the oral candidiasis and hypoparathyroidism, a clinical possibility of autoimmune polyglandular syndrome (type 1) was strongly considered. Her mother, on subsequent pregnancy was subjected to gene analysis of the fetus (chorionic villus sampling) and also for this child (index case). Both the fetus and index child were confirmed to have the AIRE gene mutation of APS1. After detailed counseling the parents opted for medical termination of the pregnancy. In children who present with recurrent oral thrush we need to consider but also look beyond immunodeficiency.
1型自身免疫性多内分泌腺病综合征（APS-1）的特征是在以下三种临床特征中至少出现两种，即慢性黏膜皮肤念珠菌病（CMC）、艾迪生病和甲状旁腺功能减退症。作者报告了一名1岁半反复出现口腔鹅口疮的女孩，她出现了全身性无热惊厥。评估显示严重低钙血症，甲状旁腺素水平低，维生素D水平正常，符合甲状旁腺功能减退症。鉴于口腔念珠菌病和甲状旁腺功能减退症，强烈考虑自身免疫性多腺综合征（1型）的临床可能性。她的母亲在随后的妊娠中接受了胎儿（绒毛取样）以及该患儿（索引病例）的基因分析。胎儿和索引病例均被证实具有APS1的AIRE基因突变。在详细咨询后，父母选择了人工终止妊娠。对于反复出现口腔鹅口疮的儿童，我们不仅需要考虑免疫缺陷，还需要进一步排查其他原因。
