European Journal of Pediatrics

, Volume 167, Issue 12, pp 1395–1398 | Cite as

Nephrocalcinosis in glucose-galactose malabsorption: nephrocalcinosis and proximal tubular dysfunction in a young infant with a novel mutation of SGLT1

  • Özlem Bekem Soylu
  • Çiğdem Ecevit
  • Serdar Altınöz
  • Aysel Aydoğan Öztürk
  • Ali Kemal Temizkan
  • Mari Maeda
  • Michihiro Kasahara
Original Paper

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.

Keywords

Glucose-galactose malabsorption Renal tubular acidosis Fanconi syndrome Nephrocalcinosis 

Abbreviations

SGLT1

Na+-dependent glucose transporter

GGM

Glucose-galactose malabsorption

TRP

Tubular reabsorption of phosphorus

GFR

Glomerular filtration rate

NAG

N-acetylglucosaminidase

RBP

Retinol-binding protein

References

  1. 1.
    Abdullah AM, Abdullah MA, Aburrahman M, Al Husain MAS (1992) Glucose-galactose malabsorption with renal stones in a Saudi child. Ann Trop Paediatr 12:327–329PubMedGoogle Scholar
  2. 2.
    Abdullah AMA, El Mouzan MI, El Sheikh OK, Al Mazyad A (1996) Congenital glucose-galactose malabsorption in Arab children. J Pediatr Gastroenterol Nutr 23:561–564PubMedCrossRefGoogle Scholar
  3. 3.
    Belmont JW, Reid B, Taylor W, Baker SS, Moore WH, Morriss MC, Podrebarac SM, Glass N, Schwartz ID (2002) Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia and nephrocalcinosis. BMC Pediatr 2:4PubMedCrossRefGoogle Scholar
  4. 4.
    El-Naggar W, Balfe JW, Barbar M, Taha D (2005) Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. Pediatr Nephrol 20:1336–1339PubMedCrossRefGoogle Scholar
  5. 5.
    Gok F, Aydin HI, Kurt I, Gokcay E, Maeda M, Kasahara M (2005) A novel mutation of Na+/glucose cotransporter in a Turkish newborn with congenital glucose-galactose malabsorption. J Pediatr Gastroenterol Nutr 40:508–511PubMedCrossRefGoogle Scholar
  6. 6.
    Pahari A, Milla PJ, van’t Hoff WG (2003) Neonatal nephrocalcinosis in association with glucose-galactose malabsorption. Pediatr Nephrol 18:700–702PubMedCrossRefGoogle Scholar
  7. 7.
    Saarela T, Simila S, Kiovisto M (1995) Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. J Pediatr 127:920–923PubMedCrossRefGoogle Scholar
  8. 8.
    Stapleton FB, Nash DA (1983) A screening test for hyperuricosuria. J Pediatr 102:88–90PubMedCrossRefGoogle Scholar
  9. 9.
    Tasic V, Slaveska N, Blau N, Santer R (2004) Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol 19:244–246PubMedCrossRefGoogle Scholar
  10. 10.
    Wright EM, Martin MG, Turk E (2001) Familial glucose-galactose malabsorption and hereditary renal glycosuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited diseases, 8th edn. McGraw-Hill, New York, pp 4891–4908Google Scholar

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Özlem Bekem Soylu
    • 1
    • 4
  • Çiğdem Ecevit
    • 1
  • Serdar Altınöz
    • 1
  • Aysel Aydoğan Öztürk
    • 1
  • Ali Kemal Temizkan
    • 2
  • Mari Maeda
    • 3
  • Michihiro Kasahara
    • 3
  1. 1.Department of PediatricsDr. Behçet Uz Children’s HospitalIzmirTurkey
  2. 2.Department of RadiologyDr. Behçet Uz Children’s HospitalIzmirTurkey
  3. 3.Laboratory of Biophysics, School of MedicineTeikyo UniversityHachioji, TokyoJapan
  4. 4.Çamlıçay MahallesiUrla, IzmirTurkey

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