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Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.
- Source :
-
European journal of pediatrics [Eur J Pediatr] 2008 Dec; Vol. 167 (12), pp. 1395-8. Date of Electronic Publication: 2008 Feb 21. - Publication Year :
- 2008
-
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.
- Subjects :
- Fanconi Syndrome genetics
Female
Glucose Metabolism Disorders genetics
Humans
Infant
Malabsorption Syndromes genetics
Nephrocalcinosis genetics
Fanconi Syndrome complications
Galactose metabolism
Glucose metabolism
Glucose Metabolism Disorders complications
Malabsorption Syndromes complications
Mutation, Missense
Nephrocalcinosis etiology
Sodium-Glucose Transporter 1 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-1076
- Volume :
- 167
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- European journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 18288487
- Full Text :
- https://doi.org/10.1007/s00431-008-0681-6