Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.
Sevil DorumHakan ErdoğanAdem Yasin KöksoyAli TopakÖzlem GörükmezPublished in: Pediatrics international : official journal of the Japan Pediatric Society (2021)
It was revealed that growth and development were normal in children with glucosuria due to variations in the SCL5A2 gene, also, renal function tests and urinary amino acid excretion were within normal values. In our case series, the most common genetic variation in the SCL5A2 gene was the A219T (c.655G> A) variant.