Case report of galactosemia with heavy proteinuria
10.3760/cma.j.cn101070-20190523-00447
- VernacularTitle:以大量蛋白尿起病的半乳糖血症1例
- Author:
Qiang SUN
1
;
Qun MENG
;
Xiaorong LIU
Author Information
1. 首都医科大学附属北京儿童医院肾病科，儿童慢性肾脏病与血液净化北京市重点实验室，国家儿童医学中心（北京），北京 100045
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(17):1355-1357
- CountryChina
- Language:Chinese
-
Abstract:
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.
