29. Anorexia nervosa induced bradycardia: A case report
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Abstract
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by mutations in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually occurs in children with nephrolithiasis and/or nephrocalcinosis and progressive renal impairment to end-stage renal disease (ESRD). We report a case of a 12-year-old boy with a history of kidney stones at 3 years of age. The child had surgery for obstruction stone removal at 5 years of age and percutaneous lithotripsy at 8 years of age. The child's younger sister also has kidney stones and has not been treated. This time, the 12-year-old boy presented with left low back pain, and no fever. He had renal failure, hypocalcemia, increased PTH, normal urinary calcium-creatinine ratio (0.03 mmol/mmol), and arterial blood gas with metabolic acidosis. X-ray of his abdomen showed bilateral kidney stones. A mutation was detected in the AGXT gene (c.466G>A; p.Gly156Arg) in both siblings. 4 months later he was on peritoneal dialysis for ESRD. PH1 should be suspected in children with recurrent kidney stones from childhood, especially with a family history of kidney stones and genetic test should be performed to confirm the diagnosis.
Article Details
Keywords
Nephrolithiasis, end-stage renal disease, AGXT gene, hyperoxaluria
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