Abstract
Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.
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Yuen YP, Lai CK, Tong GM et al. Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. J Nephrol 2004; 17: 436–440.
Monico CG, Rossetti S, Schwanz HA et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 2007; 18: 1905–1914.
Van Woerden CS, Jaap W. Groothoff et al. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int 2004; 66: 746–752.
Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol 2001; 12: 1986–1993.
Hoppe B, Graf D, Offner G et al. Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol 1996; 10: 488–492.
Santana A, Salido E, Torres A et al. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci USA 2003; 10: 7277–7282.
Rumsby G, Williams E, Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int 2004; 66: 959–963.
Pirulli D, Marangella M, Amorosa A. Primary hyperoxaluria: genotype-phenotype correlation. J Nephrol 2003; 16: 1–18.
Cochat P, Basmaison O. Current approaches to the management of primary hyperoxaluria. Arch Dis Child 2000; 82: 470–473.
Marangella M. Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness. Nephrol Dial Transplant 1999; 14: 301–303.
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Sethi, S.K., Waterham, H.R., Sharma, S. et al. Primary hyperoxaluria type 1 with a novel mutation. Indian J Pediatr 76, 215–217 (2009). https://doi.org/10.1007/s12098-008-0187-2
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DOI: https://doi.org/10.1007/s12098-008-0187-2