医学
乳酸性酸中毒
先天性高胰岛素血症
糖原贮积病
糖尿病
未能茁壮成长
高胰岛素血症
儿科
胰腺切除术
肝细胞癌
腹痛
家族史
疾病
胃肠病学
外科
胰腺
内科学
内分泌学
胰岛素抵抗
作者
Jacob Kuzy,Yochitha Pulipati,Thomas Robertson
出处
期刊:Case Reports
[BMJ]
日期:2024-05-01
卷期号:17 (5): e259355-e259355
标识
DOI:10.1136/bcr-2023-259355
摘要
Glycogen storage disease type 1A (GSD1A), also known as Von Gierke’s disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.
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