Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.

Merve Yoldaş Çelik, H. Yazıcı, Fehime Erdem, E. Canda, Banu Sarsik Kumbaraci, İpek Kaplan Bulut, S. Kalkan Uçar, S. Kabasakal, M. Çoker
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Abstract

Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone. Discussion: Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease.
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糖原储存病IXb型肾病综合征1例。
糖原储存障碍(GSD) IXb的特点是肝脏和肌肉受累。我们提出一个GSD IXb患者偶然合并肾病综合征。病例报告:一名4岁的患者在13个月大时被诊断为GSD IXb,转氨酶轻度升高,肝肿大。随访期间无低血糖发生。发育生长正常。上个月,报道了全身性水肿的发作。尿液分析显示蛋白水平高。他血清白蛋白低,血清甘油三酯胆固醇高。补体水平正常。患者经肾活检诊断为微小病变。他接受了口服强的松治疗。讨论:微小变化疾病是儿童特发性肾病综合征病例的最常见原因,治疗的第一步是使用皮质类固醇。这是首次报道与GSD IXb疾病相关的肾病综合征。
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