糖原累积病Ⅰ型患者肝、肾声像图特征分析(附2例报告)

Characteristic sonographic findings of liver and kidney in patients with glycogen storage disease type Ⅰ:an analysis of 2 cases

目的探讨Ⅰ型糖原累积病(GSDⅠ)致肝、肾受累的声像图特征。方法回顾性分析我院收治的2例经病理确诊的GSDⅠ型患者的临床资料,重点分析其肝、肾等脏器的声像图特征。结果 2例患者均为女性,分别为11岁和19岁,声像图显示肝脏弥漫性增大,回声细密、增强,其中1例肝内可见多发实性占位灶;双肾实质回声弥漫性增强,但无结石。此外,2例均表现为甲状腺及子宫偏小,临床表现身材矮小,肝功能损害。结论掌握GSDⅠ型的肝、肾声像图特征有助于及时发现和诊断这一全身性代谢疾病。

Objective To analyze the characteristic sonographic findings of the liver and kidney in patients with glycogen storage disease type Ⅰ（GSDⅠ）.Methods The clinical data of 2 children,who were pathologically diagnosed as having GSD Ⅰ in our hospital,were retrospectively analyzed,and the sonographic findings of the liver and kidney were given special attention.Results The two patients were both females,one aged 11 years old and the other aged 19.Both of them had diffused hepatomegaly with meticulous and enhanced internal echoes.One had multiple lesions in the liver,which were proven to be hepatic adenomas,with diffuse enhanced cortical echogenicity in both kidneys,but with no renal calculus.Both patients had a small-sized thyroid and uterus,with short stature and liver dysfunction as clinical presentations.Conclusion A better understanding of the ultrasonic findings of liver and kidneys in GSD Ⅰ patients can benefit the timely discovery and diagnosis of this systematic metabolic disease.