儿童SHORT综合征一例报道

Child with SHORT syndrome and literature review:a case report

患儿女,13岁,2019年7月因尿液黏着、血糖升高就诊于河北省儿童医院内分泌遗传代谢科,伴消瘦体型,皮下脂肪薄,三角脸,眼睛深陷,鼻翼薄,嘴角下垂。牙列不齐,牙体小,反咬颌。颈部皮肤黑棘皮征阳性。血糖最高为18.9 mmol/L,HbA1c 8.7%,尿糖4+,FC-P 2.09 nmol/L,FIns377.10 pmol/L,诊断为DM。医学全外显子基因检测显示患儿P1K3R1基因杂合突变(c. 1945C>T,p. R649W)考虑为SHORT综合征。经大剂量胰岛素治疗后血糖控制平稳。SHORT综合征是一种罕见的常染色体显性遗传性疾病,临床报道较少,易误诊、漏诊,临床需提高认识。

The 13-year-old patient was admitted to the Department of Endocrinology,Genetics and Metabolism of Hebei Children’s Hospital in July 2019 because of sticky urine and high blood glucose. The clinical signs includethin body shape,less subcutaneous fat,triangular face,deep-set eyes,thin nostrils,drooping mouth corners,irregular dentition,small teeth,underbite and acanthosis nigricans on neck skin.Diabetes-related laboratory indicators showed that blood glucose was up to 18. 9 mmol/L,HbA1c 8. 7%,urine glucose 4+,fasting C-peptide 2. 09 nmol/L,fasting insulin 377. 10 pmol/L. Genetic testing revealed heterozygous mutation of P1K3R1 gene(c. 1945C>T,p. R649W),which was considered to be SHORT syndrome. After treatment with large dose of insulin,the patient’s blood glucose was controlled smoothly.SHORT syndrome is a rare autosomal dominant genetic disease with few case reports,which is prone to misdiagnosis and missed diagnosis. Clinicians need to improve their understanding of this disease.