Satyarengga Medha, Zubatov Yelena, Frances Sylvaine, Narayanswami Gopal, Galindo Rodolfo J
Department of Medicine, Icahn School of Medicine at Mount Sinai, Mount Sinai St Luke's Hospital, New York, New York.
Division of Endocrinology, Diabetes, and Bone Diseases, Icahn School of Medicine at Mount Sinai, Mount Sinai St Luke's Hospital, New York, New York.
AACE Clin Case Rep. 2017 Summer;3(3):e255-e259. doi: 10.4158/EP161483.CR.
To describe a case of hepatomegaly and elevated transaminases in a patient with glycogenic hepatopathy (GH) as a complication of uncontrolled diabetes.
Clinical, laboratory, and pathological information are described.
An 18-year-old male with uncontrolled type 1 diabetes and recurrent diabetic ketoacidosis (DKA) presented with abdominal distention and severe hyperglycemia. Physical examination revealed massive hepatomegaly. Laboratory evaluation showed anion-gap metabolic acidosis, ketonuria, and markedly elevated aspartate and alanine amino transaminases (AST = 1,162 IU/L and ALT = 598 IU/L, respectively). Despite resolution of DKA with insulin infusion, transaminases continued to increase (peak AST = 3,725 U/L, ALT = 1,049 U/L) with no signs of liver failure (normal coagulation profile and albumin level). Abdominal ultrasonography revealed an enlarged liver with moderate echogenicity, consistent with steatosis. Extensive evaluation for causes of hepatitis including toxic, autoimmune, genetic, and infectious diseases was unrevealing. Liver biopsy showed no signs of nonalcoholic fatty liver disease (NAFLD), such as fibrosis, steatosis, or portal inflammation. However, swollen hepatocytes with glycogen accumulation consistent with GH were seen.
GH can present as hepatomegaly and elevated liver transaminases in patients with uncontrolled diabetes. Clinicians should consider GH in patients with uncontrolled diabetes after ruling out other common causes. Liver ultrasound cannot differentiate this condition from the more commonly seen NAFLD. Although liver biopsy remains a gold standard, evaluation with magnetic resonance imaging may be considered as a less invasive alternative in the appropriate clinical setting.
描述一例糖原累积性肝病（GH）作为未控制糖尿病并发症导致肝肿大和转氨酶升高的病例。
描述临床、实验室和病理信息。
一名18岁1型糖尿病未控制且反复发生糖尿病酮症酸中毒（DKA）的男性患者出现腹胀和严重高血糖。体格检查发现肝脏巨大。实验室检查显示阴离子间隙代谢性酸中毒、酮尿症，天冬氨酸和丙氨酸转氨酶显著升高（AST分别为1162 IU/L，ALT为598 IU/L）。尽管通过胰岛素输注使DKA得到缓解，但转氨酶仍持续升高（AST峰值为3725 U/L，ALT为1049 U/L），且无肝衰竭迹象（凝血指标和白蛋白水平正常）。腹部超声显示肝脏肿大，回声中等，符合脂肪变性。对包括中毒、自身免疫、遗传和感染性疾病在内的肝炎病因进行的广泛评估均未发现异常。肝活检未显示非酒精性脂肪性肝病（NAFLD）的迹象，如纤维化、脂肪变性或门脉炎症。然而，可见肝细胞肿胀并伴有糖原累积，符合GH表现。
GH可表现为未控制糖尿病患者的肝肿大和肝转氨酶升高。临床医生在排除其他常见病因后，应考虑未控制糖尿病患者患有GH。肝脏超声无法将这种情况与更常见的NAFLD区分开来。尽管肝活检仍是金标准，但在适当的临床情况下，可考虑使用磁共振成像进行评估，作为侵入性较小的替代方法。
