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

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• 作者：?zlem Bekem Soylu (1) (4)
  ?i?dem Ecevit (1)
  Serdar Alt?n?z (1)
  Aysel Aydo?an ?ztürk (1)
  Ali Kemal Temizkan (2)
  Mari Maeda (3)
  Michihiro Kasahara (3)
  
• 关键词：Glucose ; galactose malabsorption ; Renal tubular acidosis ; Fanconi syndrome ; Nephrocalcinosis
• 刊名：European Journal of Pediatrics
• 出版年：2008
• 出版时间：December 2008
• 年：2008
• 卷：167
• 期：12
• 页码：1395-1398
• 全文大小：107KB
• 参考文献：1. Abdullah AM, Abdullah MA, Aburrahman M, Al Husain MAS (1992) Glucose-galactose malabsorption with renal stones in a Saudi child. Ann Trop Paediatr 12:327-29
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  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 2:4 ss="external" href="http://dx.doi.org/10.1186/1471-2431-2-4">CrossRef
  4. El-Naggar W, Balfe JW, Barbar M, Taha D (2005) Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. Pediatr Nephrol 20:1336-339 ss="external" href="http://dx.doi.org/10.1007/s00467-005-1885-x">CrossRef
  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 40:508-11 ss="external" href="http://dx.doi.org/10.1097/01.MPG.0000153097.73083.A3">CrossRef
  6. Pahari A, Milla PJ, van’t Hoff WG (2003) Neonatal nephrocalcinosis in association with glucose-galactose malabsorption. Pediatr Nephrol 18:700-02 ss="external" href="http://dx.doi.org/10.1007/s00467-003-1184-3">CrossRef
  7. Saarela T, Simila S, Kiovisto M (1995) Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency. J Pediatr 127:920-23 ss="external" href="http://dx.doi.org/10.1016/S0022-3476(95)70028-5">CrossRef
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  9. Tasic V, Slaveska N, Blau N, Santer R (2004) Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol 19:244-46 ss="external" href="http://dx.doi.org/10.1007/s00467-003-1327-6">CrossRef
  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 4891-908
  
• 作者单位：?zlem Bekem Soylu (1) (4)
  ?i?dem Ecevit (1)
  Serdar Alt?n?z (1)
  Aysel Aydo?an ?ztürk (1)
  Ali Kemal Temizkan (2)
  Mari Maeda (3)
  Michihiro Kasahara (3)
  
  1. Department of Pediatrics, Dr. Beh?et Uz Children’s Hospital, Izmir, Turkey
  4. ?aml??ay Mahallesi, 5182 Sokak, No:12/A, 35315, Urla, Izmir, Turkey
  2. Department of Radiology, Dr. Beh?et Uz Children’s Hospital, Izmir, Turkey
  3. Laboratory of Biophysics, School of Medicine, Teikyo University, Hachioji, Tokyo, 192-395, Japan
  

文摘

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.