Ⅰ型糖原贮积症肾损害临床表现和病理改变

The clinical and pathological features of Chinese patients of type Ⅰ glycogen storage disease with renal involvement

目的:分析Ⅰ型糖原贮积症(GSDⅠ)肾损害的临床表现和病理改变。方法:2000年该院收治1例GSDⅠ肾损害患者,进行了为期15个月的随防,并结合收集的10例GSDⅠ患者临床资料分析。结果:①一般情况:11例患者平均年龄(20.4±7.17)岁,男∶女=7∶4。大多数儿童及青年患者智力正常(9/9例)、身材矮小(男<163cm,女<140cm,10/10例)、消瘦[体质指数(BMI)<18.0kg/m2,7/10例]。8例患者有家族史。②肾损害:表现多种多样,蛋白尿(3/6例),镜下血尿(1/5例)和高血压(1/5例)。高尿酸血症多见(7/7例),可有代谢性酸中毒(2/2例)及肾结石和(或)肾钙质沉着(3/4例),绝大多数患者肾肿大。③肾外表现:肝肿大(10/11例)、脾肿大(7/9例)、高脂血症,以三酰甘油升高(7/8例)为主,可合并高乳酸血症(4/4例),出血倾向也较常见(5/5例),约半数患者出现贫血(5/10例)。低血糖发作(3例低血糖发作+1例饥饿感/7例),空腹血糖低于正常(7/10例)或在正常低界(2/10例)。结论:GSDⅠ肾损害比较罕见,肾病临床表现和病理改变以及肾外临床表现在不同的患者间存在着差异。

Objective: To analysis the clinical and pathological feature of Chinese patients of typeⅠglycogen storage disease (GSD-Ⅰ) with renal involvement. Methods:One patients of GSD-Ⅰ with renal involvement diagnosed and treated in Research Institute of Nephrology of Jingling hospital (Nanjing, China) was reported, and clinical data of another 10 Chinese patients with GSD-Ⅰ were analyzed. Results:Eleven patients were 8-32(20.4±7.17) years old(7 male, 4 female). The intelligence of most children and adolescent were normal (9/9 patients). Growth retardation (height of male<163 cm, and of female<140 cm, 10/10 patients), thin (BMI<18.0 kg/m^(2), 7/10 patients), 8 patients had family history. Manifestation of renal lesion included proteinuria (3/6 patients), hematuria (1/5 patients) and hypersion (1/5 patients). Hyperuricemia (7/7 patients). The patients also presented metabolic acidemia (2/2 patients), renal stone and (or) nephrolithialis (3/4 patients). Most of them with renalmegaly. Systemic manifestation included hepatomegaly(10/11 patients) and spleenmegaly(7/9 patients). Hyperlipids was obvious with triglyceride dominant. 4 patients with hyperlactatemia. 5 patients bleeding tendency, epostaxis was common. Half of the patients with anemia (5/10 cases). 3 patients with hypoglycemia and 1 patient with abnormal feeling of hungry in 7 patients. Conclusion: Renal involvement of GSD-Ⅰ was rare. The renal and systemic manifestation, the clinical and pathological features were different among the patients with GSD-Ⅰ.