title: Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.
abstract: We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg-->stop (CGA-->TGA) in the Na(+)-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.
authors.affiliation: Department of Pediatrics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey. obekem@yahoo.com
authors.forename: Ozlem Bekem
authors.initials: OB
authors.lastname: Soylu
authors.forename: Ciğdem
authors.initials: C
authors.lastname: Ecevit
authors.forename: Serdar
authors.initials: S
authors.lastname: Altinöz
authors.forename: Aysel Aydoğan
authors.initials: AA
authors.lastname: Oztürk
authors.forename: Ali Kemal
authors.initials: AK
authors.lastname: Temizkan
authors.forename: Mari
authors.initials: M
authors.lastname: Maeda
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kasahara
mesh_terms: D005198:Fanconi Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D044882:Glucose Metabolism Disorders / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000150:complications* / Q000235:genetics; D020125:Mutation, Missense; D009397:Nephrocalcinosis / Q000209:etiology* / Q000235:genetics; D051269:Sodium-Glucose Transporter 1 / Q000235:genetics*
chemical_list: D051269:Sodium-Glucose Transporter 1; D005947:Glucose; D005690:Galactose