Title: Primary Hyperoxaluria In A Young Patient
Authors: Dr M. Srividya MBBS, DNB Pathology, Dr Milap Shah MD Pathology, Dr Dharmesh Kapoor MD (Med) DM (Gastro), MRCP, Hepatologist, Dr Sai Sindhu Kotla MD Pathology, FRCP, Dr Sarika Vennavalli MD Pathology
DOI: https://dx.doi.org/10.18535/jmscr/v10i12.20
Abstract
Introduction
- Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder characterized by inborn errors of glyoxylate metabolism in liver1.
- Estimated incidence is 1 in 58000
- It is basically classified into 3 types.
- PH type 1 is the most common variant and is caused by a mutation in the AGXT gene, which leads to a deficiency of the encoded liver-specific peroxisomal enzyme alanine glyoxylate aminotransferase2.
- PH type 2 is caused by mutation in GRHPR gene which encodes, glyoxylate reductase/ hydroxypyruvate reductase (GRHPR enzyme)
- 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 due to late presentation clinically along with kidneys, liver is also effected and facilitated crystal deposition in liver also. 5
References
- 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.
- Dimashkieh H, Koehler A. Primary hyperoxaluria affecting the liver. Arch Pathol Lab Med. 2002;126:1250–1.
- Patra S, Vij M, Varghese JS, Rela M. Aggressive primary hyperoxaluria involving the liver in an adult. Liver Int.
- Kogiso T, Tokushige K, Hashimoto E, et al. Primary hyperoxaluria complicated with liver cirrhosis: A case report. Hepatol Res 2015; 45: 1251–5.
- Primary Hyperoxaluria Involving the Liver With Crystal Deposits. Bansal, Nalini MD, DNB, PDCC, MNAMS1; Vij, Vivek MS, MCH2; Rastogi, Mukul MS, DM3 Author Information ACG Case Reports Journal: February 2019 - Volume 6 - Issue 2 - p e00029
- Primary hyperoxaluria. Jerome Harambat, Sonia Fargue, Justine Bacchetta,2 Cécile Acquaviva, and Pierre Cochat. International Journal of Nephrology, Hindawi. Article ID864580.published 16 june2011.
- M. Cibrik, B. Kaplan, J. A. Arndorfer, and H. U. Meier-Kriesche, “Renal allograft survival in patients with oxalosis,” Transplantation, vol. 74, no. 5, pp. 707–710, 2002.View at: Google Scholar
- V. Jamieson, “A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 transplant registry experience 1984–2004,” American Journal of Nephrology, vol. 25, no. 3, pp. 282–289, 2005.View at: Publisher Site | Google Scholar
- T. Millan, W. E. Berquist, S. K. So et al., “One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience,” Transplantation, vol. 76, no. 10, pp. 1458–1463, 2003.View at: Publisher Site | Google Scholar
- F. Gagnadoux, F. Lacaille, P. Niaudet et al., “Long term results of liver-kidney transplantation in children with primary hyperoxaluria,” Pediatric Nephrology, vol. 16, no. 12, pp. 946–950, 2001.View at: Publisher Site | Google Scholar
- R. Ellis, S. A. Hulton, P. J. McKiernan, J. V. D. De Goyet, and D. A. Kelly, “Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children,” Nephrology Dialysis Transplantation, vol. 16, no. 2, pp. 348–354, 2001.View at: Google Scholar
- Shapiro, I. Weismann, H. Mandel et al., “Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children,” Transplantation, vol. 72, no. 3, pp. 428–432, 2001.View at: Google Scholar
- Malla, P. A. Lysy, N. Godefroid et al., “Two-step transplantation for primary hyperoxaluria: cadaveric liver followed by living donor related kidney transplantation,” Pediatric Transplantation, vol. 13, no. 6, pp. 782–784, 2009.View at: Publisher Site | Google Scholar
- M. T. P. R. Perera, K. Sharif, C. Lloyd et al., “Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration,” Nephrology Dialysis Transplantation, vol. 26, no. 1, pp. 354–359, 2011.View at: Publisher Site | Google Scholar
Corresponding Author
Dr M. Srividya MBBS, DNB Pathology
Yashoda Hospitals (Secunderabad Branch, Telangana)
