28. Primary hyperoxaluria type 1 from AGXT gene mutation: A case report
Main Article Content
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
References
2. Hoppe B, Langman C. A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatric nephrology (Berlin, Germany). 2003;18:986-991.
3. Garrelfs SF, Rumsby G, Peters-Sengers H, et al. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney International. 2019; 96(6):1389-1399.
4. Beck B, Baasner A, Buescher A, et al. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. European journal of human genetics : EJHG. 2012;21.
5. Hulton SA. The primary hyperoxalurias: A practical approach to diagnosis and treatment. International Journal of Surgery. 2016;36:649-654.
6. Cellini B, Bertoldi M, Montioli R, et al. Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications. Biochem J. 2007;408(1):39-50.
7. Abukhatwah MW, Almalki SH, Althobaiti MS, et al. Primary hyperoxaluria Type 1. Medicine (Baltimore). 2020;99(25):e20371.
8. Schwartz GJ, Muñoz A, Schneider MF, et al. New equations to estimate GFR in children with CKD. J Am Soc Nephrol. 2009;20(3):629-637.
9. Soliman NA, Nabhan MM, Abdelrahman SM, et al. Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center. Nephrol Ther. 2017;13(3):176-182.
10. Shah A, Leslie SW, Ramakrishnan S. Hyperoxaluria. In: StatPearls. StatPearls Publishing; 2023. Accessed April 24, 2023.
11. Harambat J, van Stralen KJ, Espinosa L, et al. Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy. Clin J Am Soc Nephrol. 2012;7(3):458-465.