Nephrocalcinosis in glucose-galactose malabsorption: Nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1
European Journal of Pediatrics, cilt.167, sa.12, ss.1395-1398, 2008 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 167 Sayı: 12
- Basım Tarihi: 2008
- Doi Numarası: 10.1007/s00431-008-0681-6
- Dergi Adı: European Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.1395-1398
- Anahtar Kelimeler: Glucose-galactose malabsorption, Renal tubular acidosis, Fanconi syndrome, Nephrocalcinosis
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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. © 2008 Springer-Verlag.