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

Soylu, Ozlem Bekem; Ecevit, Cigdem; Altinöz, Serdar; Oztürk, Aysel Aydogan; Temizkan, Ali Kemal; Maeda, Mari; Kasahara, Michihiro.

Eur J Pediatr ; 167(12): 1395-8, 2008 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-18288487

RESUMEN

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.

Asunto(s)

Síndrome de Fanconi/complicaciones , Galactosa/metabolismo , Trastornos del Metabolismo de la Glucosa/complicaciones , Glucosa/metabolismo , Síndromes de Malabsorción/complicaciones , Mutación Missense , Nefrocalcinosis/etiología , Transportador 1 de Sodio-Glucosa/genética , Síndrome de Fanconi/genética , Femenino , Trastornos del Metabolismo de la Glucosa/genética , Humanos , Lactante , Síndromes de Malabsorción/genética , Nefrocalcinosis/genética

RESUMEN

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