摘要
目的:报道1例以肺动脉高压为首发症状的学龄期甲基丙二酸血症(MMA)患儿。方法:回顾性分析2021年9月该院收治的1例以肺动脉高压为首发症状的学龄期MMA患儿的临床资料,分析其临床特征、治疗方法及预后。结果:患儿尿甲基丙二酸和血同型半胱氨酸水平均显著升高,符合合并型MMA诊断标准;肺动脉收缩压为43 mmHg(1 mmHg=0.133 kPa),符合肺动脉高压诊断标准。治疗方案:急性期暂时限制蛋白质摄入、限制活动、适当限液、鼻导管吸氧。入院后给予碳酸氢钠纠酸(5%NaHCO33 mL/kg·d);静脉注射米力农(0.25μg/kg·min维持10 h/d);静脉注射呋塞米(20 mg/次,2次/d),治疗3 d后改为口服(20 mg/次,2次/d);口服螺内酯20 mg/次,2次/d。MMA诊断明确后(入院第5天)加用口服甜菜碱7 g/d;肌内注射维生素B121 mg/d;静脉滴注左卡尼丁注射液2 g/d;口服维生素B620 mg/d;口服叶酸10 mg/d;口服波生坦2 mg/(kg·d)。治疗后患儿尿甲基丙二酸和血同型半胱氨酸水平均显著降低,肺动脉压水平恢复至正常,目前持续随访中。结论:针对不明原因肺动脉高压,应注意筛查遗传代谢疾病,尤其伴有高乳酸血症、代谢性酸中毒、高同型半胱氨酸血症和其他多系统损害时,应高度重视MMA的可能性。
Objective:To report 1 school-age child with methylmalonic acidemia(MMA)with pulmonary hypertension as the first symptom.Methods:The clinical data of a school-age MMA child with pulmonary hypertension as the first symptom admitted to the hospital in September 2021 were retrospectively analyzed,and its clinical characteristics,treatment methods and prognosis were analyzed.Results:The levels of urinary methylmalonic acid and blood homocysteine in the children were significantly increased,which met the diagnostic criteria for combined MMA;and the pulmonary arterial systolic pressure was 43 mmHg(1 mmHg=0.133 kPa),which met the diagnostic criteria for pulmonary hypertension.Treatment plan:Temporarily limit protein intake,restrict activity,appropriately limit fluid,and inhale oxygen through nasal catheters during the acute phase.After admission,sodium bicarbonate was administered for acid correction(5%NaHCO33 mL/kg•d);intravenous injection of Milrinone(0.25μg/kg·min,maintained for 10 h/d);Intravenous injection of Furosemide(20 mg/time,2 times/d),changed to oral administration(20 mg/time,2 times/d)after 3 days of treatment;oral administration of Spironolactone 20 mg/time,2 times/d.After the diagnosis of MMA was confirmed(on the 5th day of admission),oral Betaine 7 g/d was added;intramuscular injection of Vitamin B121 mg/d;intravenous infusion of 2 g/d of Levocarnitine injection;oral vitamin B620 mg/d;oral folic acid 10 mg/d;oral administration of 2 mg/(kg•d)of Bosentan.After the treatment,the levels of urinary methylmalonic acid and blood homocysteine in the child were significantly reduced,and the pulmonary artery pressure level returned to normal.Currently,follow-up was ongoing.Conclusions:In response to unexplained pulmonary hypertension,attention should be paid to screening for genetic and metabolic diseases,especially when combined with hyperlactatemia,metabolic acidosis,hyperhomocysteinemia,and other multisystem damage.Further,the possibility of MMA should be highly paid attention to.
作者
郝海菊
王军
李艳
王茹
许远芳
HAO Haiju;WANG Jun;LI Yan;WANG Ru;XU Yuanfang(The Third Affiliated Hospital of Zhengzhou University Department of Pediatric cardiovascular medicine,Zhengzhou 450052 Henan,China;The Third Affiliated Hospital of Zhengzhou University Department of pediatric medicine,Zhengzhou 450052 Henan,China)
出处
《中国民康医学》
2023年第17期145-147,共3页
Medical Journal of Chinese People’s Health
作者简介
郝海菊(1984.06-),女,汉族,河南开封人,硕士研究生,主治医师,研究方向为儿童心律失常、川崎病等儿童心血管疾病诊治;通信作者:王军(1963.07-),女,汉族,河南辉县人,博士研究生,主任医师,研究方向为儿童心肌炎、肺动脉高压等方面的诊治。E-mail:fery01@163.com。
