Case report of galactosemia with heavy proteinuria / 中华实用儿科临床杂志

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.