以大量蛋白尿起病的半乳糖血症1例

Case report of galactosemia with heavy proteinuria

半乳糖血症是乳糖代谢过程中由于酶的缺陷导致的代谢异常。患者通常存在生长迟滞、肝肾功能障碍和脓毒症,还可能出现白内障、神经发育异常和卵巢早衰。现收集首都医科大学附属北京儿童医院收治的1例以大量蛋白尿起病的半乳糖血症患儿的临床资料,分析其病因、临床表现和治疗及随访情况。本例患儿以大量蛋白尿起病,经血尿筛查,基因检测,最终确诊为半乳糖血症。经饮食调整,预后良好。提示临床存在以大量蛋白尿起病的半乳糖血症儿童患者,较为罕见,在临床工作中针对此类患者应考虑代谢病可能,及时诊断、干预。

Galactosemia is a metabolism abnormality caused by enzyme deficiency in the process of lactose metabolism.Patients with galactosemia usually have growth retardation,liver and kidney dysfunction and sepsis.Sometimes,they may also suffer from cataract,neurodevelopmental abnormalities and premature ovarian failure.In this article,the clinical data of a patient with galactosemia and heavy proteinuria who was hospitalized in Beijing Children′s Hospital Affiliated to Capital Medical University were collected.The etiology,clinical manifestations,treatment and follow-up data were analyzed retrospectively.The patient presented with massive proteinuria,and he was diagnosed with galactosemia by blood and urine metabolism screening and genetic testing.After dietary adjustment,the prognosis was good.Children with galactosemia and heavy proteinuria are rare,who should be considered with metabolic diseases in clinical practice,and the timely diagnosis and intervention are required.