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Primary Hyperoxaluria-Imaging of Renal Oxalosis
Dillibabu Ethiraj1, Venkatraman Indiran2
1Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, Tamilnadu, India.
Abstract:
Primary Hyperoxaluria is a rare autosomal recessive hereditary disorder due to deficient alanine-glyoxylate aminotransferase enzyme with defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Deposition of excessive calcium oxalates in nephrons leads to crystallization (nephrocalcinosis) which increases risk for end-stage renal disease. We are presenting a case of primary hyperoxaluria type I confirmed with genetic studies.
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