CASE REPORT article
Front. Pharmacol.
Sec. Pharmacogenetics and Pharmacogenomics
Volume 16 - 2025 | doi: 10.3389/fphar.2025.1485024
Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: A case report of sodium thiosulfate treatment
Provisionally accepted
- 1Southeast University, Nanjing, China
- 2Nanjing Lishui People' Hospital, Southeast University, Nanjing, China
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Primary hyperoxaluria (PH) is a rare autosomal recessive disorder that results from the overproduction of endogenous oxalate. The diagnosis of PH is often delayed or missed owing to its rarity, variable clinical expression and other diagnostic challenges.In this study, we report a patient with a frameshift variant, c.823_824dup, in the alanineglyoxylate aminotransferase (AGXT) gene of PH1 who presented with renal failure recurrence after kidney transplantation, arteriovenous fistula (AVF) occlusion and subcutaneous calcification in adulthood. Skin biopsy revealed heavy deposition of calcium oxalate crystals in subcutaneous tissue without vascular oxalosis. After 6 courses of sodium thiosulfate (STS) treatment, X-rays of the bilateral hands showed the disappearance of subcutaneous calcification on the extremity of the left-hand ringfinger. This case highlights the importance of broad diagnostic testing prior to transplantation in patients who present with end-stage renal disease with unclear etiology. In addition, STS may be useful for PH1 patients with subcutaneous calcium deposits.
Keywords: Primary hyperoxaluria, AGXT gene, Subcutaneous calcification, Skin biopsy, Sodium thiosulfate
Received: 23 Aug 2024; Accepted: 30 Apr 2025.
Copyright: © 2025 Wu, Lu, Wang, LI, Wei, Gong and Tang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Rining Tang, Nanjing Lishui People' Hospital, Southeast University, Nanjing, China
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