Zhou Houfu, Xiong Daoxue, Feng Yan, Jiang Jianyu
Intensive Care Unit, Chongqing University Three Gorges Hospital, Chongqing, Wanzhou, China.
Front Pediatr. 2024 Oct 10;12:1461867. doi: 10.3389/fped.2024.1461867. eCollection 2024.
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.
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.
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.
高氨血症的确切机制被认为是多因素的，但尚未完全明确。尚无研究报道去铁胺引起的高氨血症合并范科尼综合征。
一名10岁女孩因呕吐和意识改变入院。血液检查显示高氨血症，肝功能和凝血功能正常。住院期间，患者还出现高氯性代谢性酸中毒、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科尼综合征临床相符。该患者有严重β地中海贫血病史，已接受间歇性输血约十年。患者四岁时开始口服去铁胺，剂量为400毫克/天，逐渐增加至目前的750毫克/天。入院后，停用去铁胺，并给予包括机械通气、持续血液净化治疗以降低氨水平和纠正酸中毒及电解质失衡在内的治疗。随后，血清学指标恢复正常，尿液检查结果改善。据我们所知，这是首例因去铁胺导致高氨血症合并范科尼综合征的病例报告。
对于儿童慢性疾病的有效管理和长期随访，儿科医生必须掌握标准化治疗方法及各种药物的不良反应。当临床症状难以解释时，必须追查病因并调整治疗方案，以最大程度改善患者预后。
