Cleto André Saad, Schirlo João Matheus, Beltrame Mayara, Gomes Victor Hugo Oliveira, Machozeki Janete, Martins Camila Marinelli
State University of Ponta Grossa, Ponta Grossa, Faculty of Medicine, Paraná, Brazil.
State University of Ponta Grossa, Ponta Grossa, Faculty of Medicine, Paraná, Brazil.
Endocrinol Diabetes Nutr (Engl Ed). 2025 Aug-Sep;72(7):501611. doi: 10.1016/j.endien.2025.501611.
This systematic review aimed to present the main clinical, diagnostic and therapeutic aspects of Mauriac syndrome, which is a rare syndrome that mainly affects children and adolescents with uncontrolled type 1 diabetes mellitus. This review was carried out in accordance with PRISMA and registered in PROSPERO (CRD42024531249). The following databases were used in our search: PubMed, Lilacs and Scielo, on 04/02/2024. Studies that presented any data on patients with Mauriac syndrome were included, however, review studies, letters to the editor and animal studies were excluded. The risk of bias was assessed using a specific method for case reports. To analyze the results, the general, clinical, diagnostic and therapeutic characteristics were analyzed using a qualitative analysis. A total of 24 studies were included, 18 case reports and 6 case series. The patients' mean age was 16.26 years, and the mean glycated hemoglobin was 12.93%. The main signs and symptoms reported were hepatomegaly (88%), short stature (52%), cushingoid features (35%) and abdominal discomfort (26%). The means of AST, ALT, GGT, alkaline phosphatase, total cholesterol, triglycerides and lactate were above the reference value. Some studies used abdominal ultrasound (US), abdominal computed tomography (CT) or liver biopsy to make the diagnosis. CT and US showed hepatomegaly, while liver biopsies showed glycogen accumulation in hepatocytes. Treatment in most studies was based on improving blood glucose levels and diet. Therefore, Mauriac syndrome has diverse symptoms. Lab test and imaging modalities can be useful to establish diagnosis.
本系统评价旨在阐述毛里阿克综合征的主要临床、诊断和治疗方面，该综合征是一种罕见综合征，主要影响1型糖尿病控制不佳的儿童和青少年。本评价按照PRISMA进行，并在PROSPERO（CRD42024531249）注册。2024年2月4日，我们在以下数据库进行检索：PubMed、Lilacs和Scielo。纳入呈现毛里阿克综合征患者任何数据的研究，然而，排除综述研究、致编辑信和动物研究。采用针对病例报告的特定方法评估偏倚风险。为分析结果，使用定性分析方法分析一般、临床、诊断和治疗特征。共纳入24项研究，18篇病例报告和6个病例系列。患者平均年龄为16.26岁，平均糖化血红蛋白为12.93%。报告的主要体征和症状为肝肿大（88%）、身材矮小（52%）、库欣样特征（35%）和腹部不适（26%）。谷草转氨酶、谷丙转氨酶、γ-谷氨酰转肽酶、碱性磷酸酶、总胆固醇、甘油三酯和乳酸的均值高于参考值。一些研究使用腹部超声（US）、腹部计算机断层扫描（CT）或肝活检进行诊断。CT和US显示肝肿大，而肝活检显示肝细胞内糖原蓄积。大多数研究的治疗基于改善血糖水平和饮食。因此，毛里阿克综合征有多种症状。实验室检查和影像学检查方法有助于确诊。
