Publications by authors named "Zhi-Kun Lu"
Article Synopsis
- Glycogen storage disease type Ib (GSD Ib) is a rare genetic condition that leads to severe health issues like low blood sugar and neutropenia due to mutations in the SLC37A4 gene, making traditional treatments ineffective for neutropenia.
- Recent findings on the condition allowed for the use of the SGLT2 inhibitor empagliflozin, which has shown promise in improving neutrophil function and overall health in GSD Ib patients since its introduction in 2020.
- A study of 35 pediatric GSD Ib patients revealed that empagliflozin treatment is effective and safe in managing the disease, although patients should be monitored for urinary infections and hypoglycemia as potential side effects.
Features of liver injury in 138 Chinese patients with NICCD.
J Pediatr Endocrinol Metab
December 2023
Objectives: To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients.
Methods: 138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020.