Paediatric Liver, GI and Nutrition Centre, King's College London School of Medicine at King's College Hospital, , London, UK.
Arch Dis Child. 2014 Apr;99(4):354-7. doi: 10.1136/archdischild-2013-304426. Epub 2014 Jan 10.
Mauriac syndrome is characterised by growth failure, cushingoid appearance and hepatomegaly which occurs in patients with insulin dependent diabetes and was first described shortly after the introduction of insulin as a treatment for the condition.
To describe the clinical features, histological findings and outcome of young people with glycogenic hepatopathy, the hepatic manifestation of Mauriac syndrome (MS).
Retrospective cohort study.
Young people with glycogenic hepatopathy.
Tertiary paediatric hepatology unit.
Thirty-one young people (16 M), median age of 15.1 years (IQR 14-16.2) presented within the study period. Median age of diagnosis of diabetes was 10 years (IQR 8-11). Median insulin requirement was 1.33 units/kg/day; median HbA1c was 96.7 mmol/mol (IQR 84.7-112.0). Growth was impaired: median height z-score was -1.01 (-1.73 to 0.4) and median body mass index (BMI) z-score was 0.28 (-0.12 to 0.67). Hepatomegaly was universal with splenomegaly in 16%. Transaminases were abnormal with a median aspartate aminotransferase (AST) of 76 IU/L and gamma glutamyltransferase of 71 IU/L. Liver biopsy was undertaken in 19 (61%). All showed enlarged hepatocytes with clear cytoplasm with glycogenated nuclei in 17. Steatosis was present in the majority. Inflammation was present in 8 (42%). Fibrosis was seen in 14 (73%) and was generally mild though 2 had bridging fibrosis. Megamitochondria were described in 7. Presence of megamitochondria correlated with AST elevation (p=0.026) and fibrosis on biopsy (p=0.007). At follow-up 17 children had normal or improved transaminases, in 13 there was no change. Transaminases followed the trend of the child's HbA1c.
Despite modern insulin regimens and monitoring in children with type 1 diabetes, MS still exists. Significant steatosis, inflammation and fibrosis were all seen in liver biopsies.
Mauriác 综合征的特征是生长障碍、库欣样外观和肝肿大，发生于胰岛素依赖型糖尿病患者，在胰岛素被引入作为该疾病的治疗方法后不久就首次被描述。
描述糖原性肝病（Mauriác 综合征的肝脏表现）患者的临床特征、组织学发现和结局。
回顾性队列研究。
糖原性肝病患者。
三级儿科肝病单位。
在研究期间共纳入 31 名年轻患者（16 名男性），中位年龄 15.1 岁（IQR 14-16.2）。糖尿病的中位诊断年龄为 10 岁（IQR 8-11）。中位胰岛素需要量为 1.33 单位/千克/天；中位 HbA1c 为 96.7mmol/mol（IQR 84.7-112.0）。生长发育受损：身高 z 评分中位数为-1.01（-1.73 至 0.4），体重指数（BMI）z 评分中位数为 0.28（-0.12 至 0.67）。肝肿大是普遍的，伴有 16%的脾肿大。天门冬氨酸氨基转移酶（AST）和γ-谷氨酰转移酶异常，中位 AST 为 76IU/L，γ-谷氨酰转移酶为 71IU/L。19 例（61%）进行了肝活检。所有患者均显示大肝细胞，胞质透明，核糖原化，17 例有脂肪变性。炎症存在于 8 例（42%）中。14 例（73%）存在纤维化，通常为轻度，但 2 例有桥接纤维化。7 例有巨线粒体。巨线粒体的存在与 AST 升高相关（p=0.026），与肝活检纤维化相关（p=0.007）。随访时，17 例儿童的转氨酶正常或改善，13 例无变化。转氨酶随儿童 HbA1c 的变化而变化。
尽管在儿童 1 型糖尿病患者中采用了现代胰岛素治疗方案和监测，但 Mauriác 综合征仍然存在。在肝活检中均可见明显的脂肪变性、炎症和纤维化。
