Tulzer W, Ploier R
Padiatr Padol. 1976;11(2-2):356-63.
The results of clinical and biochemical investigations on a girl with all obligatory signs of Mauriac syndrome already in infancy were compared with the different hypotheses suggested in order to explain the pathogenesis of this disease. One possible explanation for the origin of MS might be a decreased sensitivity of adenylate-cyclase to glucagon or adrenalin. Hypersensitivity to insulin, resulting in a decreased production of cyclic AMP and activation of glycogen synthetase could be excluded by measuring the urine excretion of cAMP with and without insulin. Furthermore no signs of dyspituarism were detectable on our case and the hypothesis of MS being a combination of primary glycogenosis and diabetes mellitus could also be refuted. Liver enzyme activities were normal.
对一名在婴儿期就出现毛里雅克综合征所有典型症状的女孩进行了临床和生化检查，将结果与为解释该疾病发病机制而提出的不同假说进行了比较。毛里雅克综合征起源的一种可能解释可能是腺苷酸环化酶对胰高血糖素或肾上腺素的敏感性降低。通过测量有无胰岛素时环磷酸腺苷（cAMP）的尿排泄量，可以排除对胰岛素过敏导致cAMP生成减少和糖原合成酶激活的情况。此外，在我们的病例中未检测到垂体功能障碍的迹象，毛里雅克综合征是原发性糖原贮积病和糖尿病合并症的假说也可以被反驳。肝脏酶活性正常。
