Glycogen storage disease typeⅢa in a full-term pregnant woman presented with liver cirrhosis: a case report
10.3760/cma.j.cn113903-20230804-00081
- VernacularTitle: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
- Author:
Yaru PENG
1
;
Peng LIU
;
Yueyue ZHENG
;
Qili ZHOU
;
Yanwei GUO
Author Information
1. 承德医学院附属医院妇产科研究生院，承德 067000
- Keywords:
Cirrhosis;
Glycogen storage disease type Ⅲa;
Thrombocytopenia;
Pregnancy
- From:
Chinese Journal of Perinatal Medicine
2024;27(5):421-425
- CountryChina
- Language:Chinese
-
Abstract:
This article presented the maternal and infant outcomes of glycogen storage disease type Ⅲa (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.
