Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.
Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Clin Gastroenterol Hepatol. 2017 Jun;15(6):927-933. doi: 10.1016/j.cgh.2016.11.038. Epub 2016 Dec 30.
BACKGROUND & AIMS: Glycogenic hepatopathy, a syndrome characterized by hepatomegaly and increased liver transaminases in patients with type 1 diabetes, has not been well characterized in adults. We describe the clinical, biochemical, and histopathology profile of a cohort of patients with glycogenic hepatopathy. We also examined differences between patients with type 1 diabetes with versus without glycogenic hepatopathy.
We performed a case-control study of patients with type 1 diabetes diagnosed with glycogenic hepatopathy and patients with type 1 diabetes without glycogenic hepatopathy (control subjects). Cases were identified in the database of electronic medical records at Mayo Clinic, Rochester from January 1, 1998, through January 1, 2014. Age- and sex-matched control subjects were identified from a Mayo Clinic registry of patients with type 1 diabetes who had normal levels of liver enzymes. Demographic, clinical, laboratory, and histopathology data were collected and compared between cases and control subjects. The primary outcome was difference in frequency of diabetic ketoacidosis episodes and hemoglobin (Hb) A levels between cases and control subjects.
Among the 36 patients diagnosed with glycogenic hepatopathy, 20 had undergone liver biopsy analysis. Most cases were female (n = 28; 77.8%). Abdominal pain was the most common symptom (n = 23; 63.9%); 28 patients (77.8%) had hepatomegaly. All patients had poor control of diabetes (mean HbA level, 11.2 ± 2.4%). A higher proportion of cases had recurrent episodes of diabetic ketoacidosis (61%) than control subjects (9%) (P = .009), and cases had a higher mean level of HbA (11.2 ± 2.4% vs 9.0 ± 2.2% in control subjects; P = .0004). Adult cases had higher levels of aspartate transaminase (312.5 IU/L; range, 245.5-775 IU/L) than pediatric cases (157; range, 104-267 IU/L; P = .02) and lower serum levels of albumin (3.7 ± 0.5 g/dL vs 4.3 ± 0.4 g/dL for pediatric cases; P = .008). Only 16.7% of pediatric patients with glycogenic hepatopathy had growth retardation. Levels of liver transaminases were normalized at follow-up examinations of 18 of 21 adult or pediatric patients with glycogenic hepatopathy.
More than half of patients with glycogenic hepatopathy and type 1 diabetes have recurrent episodes of diabetic ketoacidosis, and these patients have higher levels of HbA than patients with type 1 diabetes without glycogenic hepatopathy. We observed growth retardation in only about 17% of pediatric patients with glycogenic hepatopathy.
糖原贮积性肝病是一种以 1 型糖尿病患者肝肿大和肝转氨酶升高为特征的综合征，但尚未在成人中得到很好的描述。我们描述了一组糖原贮积性肝病患者的临床、生化和组织病理学特征。我们还检查了 1 型糖尿病伴与不伴糖原贮积性肝病患者之间的差异。
我们对 1998 年 1 月 1 日至 2014 年 1 月 1 日期间在梅奥诊所罗切斯特电子病历数据库中诊断为糖原贮积性肝病的 1 型糖尿病患者（病例）和无糖原贮积性肝病的 1 型糖尿病患者（对照组）进行了病例对照研究。年龄和性别匹配的对照组是从梅奥诊所的 1 型糖尿病患者登记册中确定的，这些患者的肝酶水平正常。收集并比较了病例和对照组之间的人口统计学、临床、实验室和组织病理学数据。主要结局是病例和对照组之间糖尿病酮症酸中毒发作频率和血红蛋白（Hb）A 水平的差异。
在 36 例诊断为糖原贮积性肝病的患者中，有 20 例行肝活检分析。大多数患者为女性（n=28；77.8%）。腹痛是最常见的症状（n=23；63.9%）；28 例患者（77.8%）有肝肿大。所有患者的糖尿病控制均较差（平均 HbA 水平为 11.2±2.4%）。与对照组（9%）相比，病例组发生复发性糖尿病酮症酸中毒的比例更高（61%）（P=0.009），病例组的 HbA 平均水平也更高（11.2±2.4%比对照组的 9.0±2.2%；P=0.0004）。成年病例的天门冬氨酸转氨酶（312.5IU/L；范围 245.5-775IU/L）水平高于儿科病例（157；范围 104-267IU/L；P=0.02），血清白蛋白水平也较低（3.7±0.5g/dL比儿科病例的 4.3±0.4g/dL；P=0.008）。仅有 16.7%的糖原贮积性肝病儿科患者存在生长迟缓。在 21 例成年或儿科糖原贮积性肝病患者中有 18 例随访检查时肝转氨酶水平恢复正常。
超过一半的糖原贮积性肝病和 1 型糖尿病患者有复发性糖尿病酮症酸中毒，这些患者的 HbA 水平高于无糖原贮积性肝病的 1 型糖尿病患者。我们观察到仅有约 17%的糖原贮积性肝病儿科患者存在生长迟缓。
