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遗传性酪氨酸血症的主要特征是可以导致硬化性的肝损害及伴有低磷血症性佝偻病的肾小管缺陷。疼痛发生于腹部和腿部,与急性间歇性卟啉症,高血压危象类似。本文报告的是患有类似症状和体征的男孩,同时患有糖尿病。该男孩完全符合急性遗传性酪氨酸血症的诊断标准,同时有高血压危象,间歇性疼痛,P-醛固酮和P-肾素升高。P-血浆铜兰蛋白和P-血清类粘蛋自不同程度的下降。而这种病以前未见过患者有糖
A major feature of hereditary tyrosinemia is liver damage that can cause sclerosing and tubular defects associated with hypophosphatemic rickets. Pain occurs in the abdomen and legs, and acute intermittent porphyria, hypertension crisis similar. This article reports on boys with similar symptoms and signs, as well as diabetes. The boy is fully consistent with the diagnostic criteria for acute hereditary tyrosinemia, with hypertensive crisis, intermittent pain, elevated p-aldosterone and P-renin. P-plasma ceruloplasmin and P-seroglutamicin decreased to varying degrees. The disease has not seen patients with sugar before