Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment
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 fr...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphar.2025.1485024/full |
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| author | Min Wu Jing Lu Yu-Jia Wang Yong-Qi Li Qing Wei Yu-Xiang Gong Ri-Ning Tang Ri-Ning Tang |
| author_facet | Min Wu Jing Lu Yu-Jia Wang Yong-Qi Li Qing Wei Yu-Xiang Gong Ri-Ning Tang Ri-Ning Tang |
| author_sort | Min Wu |
| collection | DOAJ |
| description | 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 alanine-glyoxylate 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 ring-finger. 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. |
| format | Article |
| id | doaj-art-6eb482c52466480a8bd6ccc4fb0de404 |
| institution | DOAJ |
| issn | 1663-9812 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj-art-6eb482c52466480a8bd6ccc4fb0de4042025-08-20T02:57:29ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-05-011610.3389/fphar.2025.14850241485024Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatmentMin Wu0Jing Lu1Yu-Jia Wang2Yong-Qi Li3Qing Wei4Yu-Xiang Gong5Ri-Ning Tang6Ri-Ning Tang7Institute of Nephrology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaInstitute of Nephrology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaInstitute of Nephrology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaInstitute of Nephrology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaRenal Pathology Department, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaRenal Pathology Department, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaInstitute of Nephrology, Zhongda Hospital, School of Medicine, Southeast University, Nanjing, ChinaInstitute of Nephrology, Nanjing Drum Tower Hospital, Nanjing University Medical School, Nanjing, ChinaPrimary 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 alanine-glyoxylate 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 ring-finger. 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.https://www.frontiersin.org/articles/10.3389/fphar.2025.1485024/fullprimary hyperoxaluriaAGXT genesubcutaneous calcificationskin biopsysodium thiosulfate |
| spellingShingle | Min Wu Jing Lu Yu-Jia Wang Yong-Qi Li Qing Wei Yu-Xiang Gong Ri-Ning Tang Ri-Ning Tang Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment Frontiers in Pharmacology primary hyperoxaluria AGXT gene subcutaneous calcification skin biopsy sodium thiosulfate |
| title | Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment |
| title_full | Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment |
| title_fullStr | Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment |
| title_full_unstemmed | Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment |
| title_short | Primary hyperoxaluria type I diagnosed after a kidney transplant presenting with subcutaneous calcification: a case report of sodium thiosulfate treatment |
| title_sort | primary hyperoxaluria type i diagnosed after a kidney transplant presenting with subcutaneous calcification a case report of sodium thiosulfate treatment |
| topic | primary hyperoxaluria AGXT gene subcutaneous calcification skin biopsy sodium thiosulfate |
| url | https://www.frontiersin.org/articles/10.3389/fphar.2025.1485024/full |
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