Luo Youyou, Chen Jie, Fang Youhong, Lou Jingan, Yu Jindan
Gastroenterology Department, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
BMC Pediatr. 2018 Jun 15;18(1):191. doi: 10.1186/s12887-018-1169-9.
Autoimmune metaplastic atrophic gastritis is a chronic progressive inflammatory condition. The clinical spectrum includes pernicious anemia, atrophic gastritis, antibodies to parietal cell antigens and intrinsic factor, achlorhydria, hypergastrinemia and carcinoma. It is rare in paediatric cohorts.
We present the case of a boy with metaplastic atrophic gastritis in whom immune dysregulation, polyendocrinopathy, enteropathy, X-linked(IPEX) syndrome was confirmed by FOXP3 gene mutation. The patient was referred to the hospital at the age of 3 years with recurrent emesis, diarrhoea and malnutrition. His elder brother died at 9 years of age from acute respiratory distress syndrome and renal tubular acidosis. The patient was allergic to cow milk formula and noodles. Oesophagegastroduodenoscopy revealed redness, erosion and edema throughout the stomach; whitish granules in the duodenal bulb; and edema in the second part of the duodenum. Biopsies showed extensive villous atrophy and goblet cell depletion in the duodenum. He was diagnosed with type-1 diabetes mellitus (T1DM) during the treatment of methylprednisolone. Serum antibodies against glutamic acid decarboxylase and pancreatic islets were detected. The patient's FOXP3 gene was sequenced; this identified that the patient was hemizygous for a pathogenic variant [NM_014009.3:c.748_750del (p.Lys250del)].
Metaplastic atrophic gastritis is rarely reported in patients with IPEX. Clinical gastroenterologists should be aware of IPEX syndrome when facing the complex syndromes of metaplastic atrophic gastritis and endocrinopathy.
自身免疫性化生萎缩性胃炎是一种慢性进行性炎症性疾病。临床谱包括恶性贫血、萎缩性胃炎、壁细胞抗原和内因子抗体、胃酸缺乏、高胃泌素血症和癌症。在儿科队列中较为罕见。
我们报告一例患有化生萎缩性胃炎的男孩，通过FOXP3基因突变确诊为免疫失调、多内分泌腺病、肠病、X连锁（IPEX）综合征。该患者3岁时因反复呕吐、腹泻和营养不良被转诊至医院。他的哥哥9岁时死于急性呼吸窘迫综合征和肾小管酸中毒。患者对牛奶配方奶粉和面条过敏。食管胃十二指肠镜检查显示整个胃部发红、糜烂和水肿；十二指肠球部有白色颗粒；十二指肠第二部有水肿。活检显示十二指肠广泛绒毛萎缩和杯状细胞减少。在甲基强的松龙治疗期间，他被诊断为1型糖尿病（T1DM）。检测到抗谷氨酸脱羧酶和胰岛的血清抗体。对患者的FOXP3基因进行测序；结果确定患者为一种致病变异[NM_014009.3:c.748_750del（p.Lys250del）]的半合子。
IPEX患者中很少报告化生萎缩性胃炎。临床胃肠病学家在面对化生萎缩性胃炎和内分泌病的复杂综合征时应了解IPEX综合征。
