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Category: Volume 10 Issue 12 December 2022
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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

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Corresponding Author

Dr M. Srividya MBBS, DNB Pathology

Yashoda Hospitals (Secunderabad Branch, Telangana)