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Primary Hyperoxaluria Involving the Liver With Crystal Deposits

Bansal, Nalini, MD, DNB, PDCC, MNAMS1; Vij, Vivek, MS, MCH2; Rastogi, Mukul, MS, DM3

doi: 10.14309/crj.0000000000000029

1Department of Histopathology, SRL Ltd, Fortis Escorts Heart Institute, New Delhi, India

2Department of Liver Transplant Surgery, Fortis Escorts Heart Institute, New Delhi, India

3Department of Hepatology, Fortis Escorts Heart Institute, New Delhi, India

Correspondence: Nalini Bansal, MD, DNB, PDCC (Hepatopathology), MNAMS, SRL Ltd, Fortis Escort Heart Institute, Okhla, New Delhi, India 110025 (

This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Received May 22, 2018

Accepted December 21, 2018

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A 29-year-old man was known to have multiple bilateral pyelolithotomies for the past 16 years and developed end-stage renal disease 2 years earlier. Molecular genetic testing revealed that he was homozygous for a pathogenic variant of the AGXT gene. Secondary causes of hyperoxaluria were ruled out, given the lack of evidence for malabsorption, high oxalate/low calcium intake in his diet, and lack of prematurity at birth. He was later diagnosed to have hepatitis C virus for the past 6 years, for which no treatment was taken. He was also found to be hepatitis B virus-positive 2 years prior and was on tablet entecavir. His liver function test revealed bilirubin 0.49 g/dL, serum glutamic oxaloacetic transaminase 53 U/L, serum glutamate-pyruvate transaminase 26 U/L, serum alkaline phosphatase 482 U/L, gamma glutamyl transferase 157 U/L, blood urea nitrogen 53 mg/dL, creatinine 7.14 mg/dL, hepatitis B virus DNA 958 IU/mL, and hepatitis C virus antibody 42 IU/mL. He underwent combined liver-kidney transplant for the same. Explant liver showed the presence of birefringent oxalate crystals at several foci within the portal tracts (Figure 1).

Figure 1

Figure 1

Primary hyperoxaluria (PH) is a rare metabolic disorder characterized by inborn errors of glyoxylate metabolism.1 It has been classified into 3 types. PH type 1 is the most common and is caused by a mutation in the AGXT gene, which leads to a deficiency of the encoded liver-specific peroxisomal enzyme alanine glyoxylate aminotransferase.2 PH type 2 is caused by a deficiency of glyoxylate reductase/hydroxypyruvate reductase and accounts for about 10% of genetically characterized PH cases. PH type 3 is the rarest type caused by mutation in HOGA1 that encodes the liver-specific mitochondrial enzyme 4-hydroxy-2-oxoglutarate aldolase (HOGA). Each of these mutations leads to overproduction and excretion of oxalate that gets deposited primarily in the kidney. Involvement of liver with oxalate deposits is extremely rare with only 4 cases in the previously reported literature.1–4 Because the primary enzymatic defect lies in the liver, isolated kidney transplant is not useful in PH and dual organ transplantation is required. In our case, associated comorbidities including chronic hepatitis B and C virus might have precipitated the damage and facilitated crystal deposition.

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Author contributions: N. Bansal designed the study, collected and interpreted the data, drafted and critically revised the article, and is the article guarantor. V. Vij designed the study and approved the final version to be published. M. Rastogi designed the study, critically revised the article, and approved the final version to be published.

Financial disclosure: None to report.

Informed consent was obtained for this case report.

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1. Tanriover B, Mejia A, Foster SV, Mubarak A. Primary hyperoxaluria involving the liver and hepatic arteries; images of an aggressive disease. Kidney Int. 2010;77:651.
2. Dimashkieh H, Koehler A. Primary hyperoxaluria affecting the liver. Arch Pathol Lab Med. 2002;126:1250–1.
3. Patra S, Vij M, Varghese JS, Rela M. Aggressive primary hyperoxaluria involving the liver in an adult. Liver Int. 2012;32(10):1564.
4. Kogiso T, Tokushige K, Hashimoto E, et al. Primary hyperoxaluria complicated with liver cirrhosis: A case report. Hepatol Res 2015; 45: 1251–5.
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