地拉罗司诱发的高氨血症和范可尼综合征:一份病例报告。

IF 2.1 3区 医学 Q2 PEDIATRICS Frontiers in Pediatrics Pub Date : 2024-10-10 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1461867
Houfu Zhou, Daoxue Xiong, Yan Feng, Jianyu Jiang
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引用次数: 0

摘要

背景:高氨血症的确切机制被认为是多因素的,但尚未完全清楚。目前还没有研究报道地拉罗司引起的高氨血症合并范可尼综合征:一名 10 岁女孩因呕吐和意识改变入院。血液检测显示患者患有高氨血症,肝功能和凝血功能正常。住院期间,患者还出现了高氯代谢性酸中毒、低钾血症、低钠血症和低磷血症。此外,尿液分析显示葡萄糖和蛋白质水平与范可尼综合征临床相符。患者有严重的β-地中海贫血病史,大约十年来一直接受间歇性输血。患者四岁时开始口服地拉羅司,剂量为 400 毫克/天,之后逐渐增加到目前的 750 毫克/天。入院后,患者停用了地拉羅司,并接受了包括机械通气、持续血液净化治疗以降低氨氮和酸中毒,以及纠正电解质失衡在内的治疗。随后,血清学指标恢复正常,尿检结果也有所改善。据我们所知,这是首例因服用地拉罗司而导致高氨血症并发范可尼综合征的病例:为了对儿童慢性病进行有效管理和长期跟踪,儿科医生必须掌握标准化治疗方法和各种药物的不良反应。当临床症状难以解释时,我们必须追根溯源,调整治疗方案,最大限度地改善患者的预后。
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Deferasirox-induced hyperammonemia and Fanconi syndrome: a case report.

Background: The exact mechanism of hyperammonemia is thought to be multifactorial, but is not yet fully understood. No studies have yet reported hyperammonemia combined with Fanconi syndrome caused by deferasirox.

Case presentation: A 10-year-old girl was admitted for vomiting and altered consciousness. Blood testing revealed hyperammonemia and normal liver and coagulation functions. During hospitalization, the patient also exhibited hyperchloremic metabolic acidosis, hypokalemia, hyponatremia, and hypophosphatemia. Additionally, urinalysis revealed glucose and protein levels clinically consistent with Fanconi syndrome. The patient had a history of severe beta-thalassemia and had received intermittent blood transfusions for approximately ten years. The patient had been administered oral deferasirox at a 400 mg/day dose at the age of four, which had been gradually increased to the current 750 mg/day dosage. Upon admission, deferasirox was discontinued and treatment including mechanical ventilation, continuous blood purification therapy for ammonia reduction and acidosis, and electrolyte imbalance corrections was administered. Subsequently, serological markers returned to normal, urine test findings improved. To the best of our knowledge, this is the first report of a case of hyperammonemia with Fanconi syndrome owing to deferasirox.

Conclusions: For effective management and long-term follow-up of chronic diseases in children, pediatricians must master standardized treatments and the adverse reactions of various drugs. When symptoms are difficult to explain clinically, we must trace the source and adjust the treatment plan to maximize improving the patient's prognosis.

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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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