Nephrolithiasis in a child with glucose-galactose malabsorption.
Glucose-galactose malabsorption (GGM) is a rare autosomal recessive disorder of intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, failure to thrive, or early death. We report a female newborn with GGM, whose clinical diagnosis was confirmed by mutational analysis of the SGTL1 gene. Bilateral nephrolithiasis was discovered after an episode of hematuria. Metabolic causes of nephrolithiasis were not found. The most likely explanation for the development of nephrolithiasis is chronic diarrhea leading to dehydration and highly concentrated urine. High fluid intake and rigorous prevention of dehydration is therefore advised for these patients. Furthermore, life-long monitoring of their renal status, including regular ultrasound examinations, is warranted.
Tasic
Velibor
V
Department of Pediatric Nephrology, University Children's Hospital, 17 Vodnjanska, 1000 Skopje, Macedonia. vtasic@freemail.com.mk
Slaveska
Nevenka
N
Blau
Nenad
N
Santer
René
R
D026923:Amino Acid Transport Systems, Basic / Q000235:genetics; D002908:Chronic Disease; D018389:Codon, Nonsense; D003596:Cytosine; D003967:Diarrhea / Q000150:complications; D005260:Female; D005690:Galactose / Q000378:metabolism*; D017353:Gene Deletion; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007669:Kidney Calculi / Q000150:complications* / Q000000981:diagnostic imaging; D008286:Malabsorption Syndromes / Q000150:complications* / Q000209:etiology / Q000235:genetics / Q000378:metabolism*; D013941:Thymine; D014463:Ultrasonography
D026923:Amino Acid Transport Systems, Basic; D018389:Codon, Nonsense; C077738:sodium-dependent glutamine transporter; D003596:Cytosine; D005947:Glucose; D013941:Thymine; D005690:Galactose