ArticleEuropean journal of pediatrics2008
Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Congenital Glucose-Galactose Malabsorption: A Rare Cause of Intractable Diarrhea in Infancy.Indian pediatrics · 2025Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Article
- Fructose Metabolism and Its Effect on Glucose-Galactose Malabsorption Patients: A Literature Review.Diagnostics (Basel, Switzerland) · 2023Review
- NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.Diagnostics (Basel, Switzerland) · 2021Article
- Glucose transporters in the small intestine in health and disease.Pflugers Archiv : European journal of physiology · 2020Review
- Congenital glucose-galactose malabsorption: A case report with a novelClinical case reports · 2019Article
- A novel SGLT is expressed in the human kidney.European journal of pharmacology · 2012Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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