Sato Hirotaka, Takase Kentaro, Kin Seikon
Nephrology, Shimane Prefectural Central Hospital, Izumo, JPN.
Cureus. 2022 Jun 22;14(6):e26213. doi: 10.7759/cureus.26213. eCollection 2022 Jun.
Glycogen storage disease type Ⅰa (GSDIa), also known as von Gierke disease, is a rare inherited metabolic disorder caused by defective glucose 6-phosphatase (G6Pase) activity. Although anemia, renal failure, and hepatic adenoma are the major clinical manifestations of GSDIa, there has been no report of refractory anemia in GSDIa patients on maintenance hemodialysis (HD) concomitant with multiple liver adenomas. Herein, we present a case of refractory anemia in a patient with GSDIa undergoing HD with multiple hepatic adenomas, successfully managed through aggressive treatment for renal anemia and intravenous iron therapy (IIT). A 26-year-old man with GSDIa who had been on HD for a year suffered from refractory anemia. He had experienced hypoglycemia and hyperlactic acidemia repeatedly and unusual hypertriglyceridemia had been observed for a long time. In addition, multiple hepatic adenomas developed and his renal function gradually declined, eventually progressing to end-stage kidney disease, and HD was started. Despite 120 µg/week of darbepoetin alfa (DA), 200 mg/day of oral sodium ferrous citrate, and 600 mg/week of roxadustat, the anemia persisted and iron deficiency gradually progressed. We considered that renal anemia, blood loss by each HD session, and decreased intestinal iron absorption due to inappropriately increased hepcidin from hepatic adenomas were the main etiology of the anemia; hence, we changed oral sodium ferrous citrate to intravenous saccharated ferric oxide along with continuous aggressive treatment of renal anemia, and the anemia resolved quickly within three months. We believe that refractory anemia was mainly induced by renal anemia and chronic iron deficiency due to blood loss during HD and inappropriately elevated hepcidin levels in hepatic adenomas. Aggressive treatment of renal anemia, along with IIT, may be a promising treatment option. Strict monitoring of iron overload is essential for safe treatment.
Ⅰa型糖原贮积病（GSDIa），也称为冯·吉尔克病，是一种由葡萄糖6磷酸酶（G6Pase）活性缺陷引起的罕见遗传性代谢紊乱疾病。虽然贫血、肾衰竭和肝腺瘤是GSDIa的主要临床表现，但尚无关于维持性血液透析（HD）的GSDIa患者并发多发性肝腺瘤时出现难治性贫血的报道。在此，我们报告一例接受HD治疗且患有多发性肝腺瘤的GSDIa患者出现难治性贫血的病例，通过积极治疗肾性贫血和静脉铁剂治疗（IIT）成功得到控制。一名26岁患有GSDIa的男性，已接受HD治疗一年，患有难治性贫血。他反复出现低血糖和高乳酸血症，长期观察到异常的高甘油三酯血症。此外，出现了多发性肝腺瘤，其肾功能逐渐下降，最终发展为终末期肾病，并开始进行HD治疗。尽管每周使用120μg的阿法依泊汀（DA）、每天口服200mg的枸橼酸铁钠以及每周600mg的罗沙司他，贫血仍持续存在且缺铁逐渐加重。我们认为肾性贫血、每次HD治疗导致的失血以及肝腺瘤导致的铁调素不适当增加引起的肠道铁吸收减少是贫血的主要病因；因此，我们将口服枸橼酸铁钠改为静脉注射含糖氧化铁，并持续积极治疗肾性贫血，贫血在三个月内迅速得到缓解。我们认为难治性贫血主要是由肾性贫血以及HD期间失血和肝腺瘤中铁调素水平不适当升高导致的慢性缺铁引起的。积极治疗肾性贫血并联合IIT可能是一种有前景的治疗选择。严格监测铁过载对于安全治疗至关重要。
