以肝硬化为突出表现的糖原贮积病Ⅲa型患者足月妊娠1例

Glycogen storage disease typeⅢa in a full-term pregnant woman presented with liver cirrhosis:a case report

本文报道了1例糖原贮积病Ⅲa型合并足月妊娠母儿结局的临床资料。该患者生后3个月以低血糖发病,静脉滴注葡萄糖注射液后缓解;19岁时因脊柱侧弯行手术治疗时发现肝硬化、脾脏肿大和血小板减少,肝穿刺检出肝脏组织中糖原脱支酶缺乏,临床诊断糖原贮积病Ⅲ型(无基因型诊断)。此次因“孕34周+3,不规律下腹痛1 d”入院,经妊娠后期多学科管理,包括药物调整、饮食指导以及术前半小时及术中输注血小板,于孕37周+1剖宫产分娩一男婴,新生儿1、5、10 min Apgar评分分别为9、10、10分。产后患者高蛋白饮食,新生儿出生后出现低血糖,静脉滴注葡萄糖后恢复正常,监测母亲及新生儿血糖维持稳定。产妇产后经全外显子组测序检测为AGL基因复合杂合变异:染色体位置:chr1:100379102-100379103,基因变异信息:NM_000642.2:c.3971_3972delAT(p.Tyr1324*);染色体位置:chr1:100345603,基因变异信息:NM_000642.2:c.1735+1G>T,诊断为糖原贮积病Ⅲa型。新生儿为AGL基因杂合变异:染色体位置:chr1:100379102-100379103,基因变异信息:NM_000642.2:c.3971_3972delAT(p.Tyr1324*)。产后1和2个月随访患者血糖维持稳定,新生儿生长发育未见异常。

This article presented the maternal and infant outcomes of glycogen storage disease typeⅢa(GSDⅢa)in a woman with full-term pregnancy.The woman exhibited symptoms of hypoglycemia when she was three months old,which were alleviated with intravenous glucose infusion.At the age of 19,during surgical treatment for scoliosis,she was found with liver cirrhosis,splenomegaly,and thrombocytopenia.Glycogen debranching enzyme deficiency was detected through liver biopsies,leading to the clinical diagnosis of GSDⅢ(unspecified genotype).The patient was admitted after conceiption due to"irregular lower abdominal pain for 1 day"at 34 weeks and 3 days.Through multidisciplinary management in the late pregnancy,which included medication adjustments,dietary instruction,and platelet transfusions both at half an hour before and during the operation,the patient underwent a cesarean section at 37+1 weeks of gestation and delivered a healthy boy with normal Apgar scores at 1,5,and 10 min.The mother followed a high-protein diet postpartum and the newborn experienced hypoglycemia after birth.Intravenous glucose was supplied to the infant,restabilizing his blood glucose.Maternal and neonatal blood glucose both remained stable.Postpartum whole-exome sequencing identified compound heterozygous variants in the mother,which were in the AGL gene at chr1:100379102-100379103 with gene variant information of NM_000642.2:c.3971_3972delAT(p.Tyr1324*)and at chr1:100345603 with gene variant information of NM_000642.2:c.1735+1G>T,confirming the diagnosis of GSDⅢa.The newborn carried a heterozygous variant in the AGL gene at chr1:100379102-100379103 with gene variant information of NM_000642.2:c.3971_3972delAT(p.Tyr1324*).Postpartum follow-ups showed stable blood glucose levels for the mother and normal growth and development for the newborn.