Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive metabolic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, leading to excessive oxalate production, recurrent nephrolithiasis, and progressive nephrocalcinosis. We report a case of a 14-year-old boy with genetically confirmed PH1 (EXON 4 homozygous pathogenic mutation) diagnosed at 3 years of age, who presented with progressively decreasing urine output and abdominal pain. He was undergoing ambulatory peritoneal dialysis for stage V chronic kidney disease. Laboratory evaluation revealed elevated serum oxalate (215 μmol/L) and serum creatinine (5.0 mg/dL post-dialysis). Plain radiographs demonstrated bilateral dense nephrocalcinosis. Ultrasound showed markedly echogenic renal cortices with posterior acoustic shadowing and shrunken kidneys. CT imaging confirmed extensive symmetrical cortical nephrocalcinosis with tram-line calcifications sparing the medulla. The patient had a history of recurrent renal calculi since 2012, requiring pyelolithotomy at age 2 and percutaneous nephrolithotomy with DJ stenting in 2015. Complications included oxalate cardiomyopathy with pulmonary arterial hypertension (>60 mmHg), dilated left atrium, left ventricular hypertrophy, and pulmonary regurgitation. FDG PET-CT revealed mild asymmetrical increased uptake in the left triradiate epiphysis and sacral ala, suggesting early skeletal oxalosis. The patient is currently awaiting combined liver-kidney transplantation. This case highlights the characteristic imaging findings of cortical nephrocalcinosis in PH1 and the importance of early diagnosis and multidisciplinary management to prevent systemic oxalosis.
Keywords: Primary hyperoxaluria type 1, cortical nephrocalcinosis, oxalosis, nephrolithiasis, combined liver-kidney transplantation
How to cite this article: Suthagar J, Baskar A, Gopalakrishnan M, Indiran V, Kailash J, Primary Oxalosis with Extensive Nephrocalcinosis: A Case Report. Int J Drug Deliv Technol. 2026;16(5s): 274-277; DOI: 10.25258/ijddt.16.5s.35
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