Nephrolithiasis in a child with glucose-galactose malabsorption.
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Nephrolithiasis in a child with glucose-galactose malabsorption. / Tasic, Velibor; Slaveska, Nevenka; Blau, Nenad; Santer, René.
In: PEDIATR NEPHROL, Vol. 19, No. 2, 2, 2004, p. 244-246.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Nephrolithiasis in a child with glucose-galactose malabsorption.
AU - Tasic, Velibor
AU - Slaveska, Nevenka
AU - Blau, Nenad
AU - Santer, René
PY - 2004
Y1 - 2004
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 19
SP - 244
EP - 246
JO - PEDIATR NEPHROL
JF - PEDIATR NEPHROL
SN - 0931-041X
IS - 2
M1 - 2
ER -
