Endocrinología, Hospital General La Mancha Centro, SPAIN.
Hospital General La Mancha Centro.
Rev Esp Enferm Dig. 2023 Nov;115(11):659-660. doi: 10.17235/reed.2023.9513/2023.
The Pierre Mauriac syndrome described in the year 1930, is characterized by growth failure, cushingoid appearance, hepatomegaly and hypertransaminasemia, in a patient with chronic uncontrolled DM1. The most common age of presentation is usually in adolescence, although cases have been described in both children and adults. The hallmark of this syndrome is extreme liver enlargement from massive acucumulation of glycogen. The diagnosis of hepatopathy requires high clinical suspicion and the presence of glycogen accumulation must be corroborated with a liver biopsy. The accumulation of glycogen in hepatocytes is partly caused by long periods of hyperglycemia, in which glucose enters the hepatocyte independently of insulin and is converted to glycogen. Mauriac syndrome is currently a rare cause of liver disease, due to improvements in control and treatment of patients with DM1. However, some cases are described in people with complicated social situations or without therapeutic compliance. This is a reversible condition after improvement in glycemic control with adequate insulinization. For this reason, we believe it convenient to suspect this clinical picture in patients with poor glycemic control and symptoms of pain and abdominal distension.
皮埃尔·毛里亚克（Pierre Mauriac）综合征于 1930 年被描述，其特征为生长障碍、库欣样外观、肝肿大和转氨酶升高，发生于慢性未控制的 1 型糖尿病患者中。最常见的发病年龄通常在青春期，但也有儿童和成人发病的报道。该综合征的标志是大量糖原积累导致的肝脏极度肿大。肝病变的诊断需要高度的临床怀疑，并且必须通过肝活检证实糖原的积累。肝细胞中糖原的积累部分是由于长时间的高血糖，在此期间葡萄糖独立于胰岛素进入肝细胞并转化为糖原。由于 1 型糖尿病患者的控制和治疗得到改善，毛里亚克综合征目前已成为一种罕见的肝病病因。然而，在社会情况复杂或治疗不依从的人群中仍有一些病例报道。在通过适当的胰岛素治疗改善血糖控制后，这种情况是可逆的。因此，我们认为在血糖控制不佳且有腹痛和腹胀症状的患者中怀疑这种临床表现是合理的。
