Late diagnosis of primary hyperoxaluria after failed kidney transplantation

Abstract

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. Hyperoxaluria leads to recurrent formation of calculi and/or nephrocalcinosis and often early end-stage renal disease (ESRD) accompanied by systemic calcium oxalate crystal deposition. In this report, we describe an adult female patient with only one stone passage before development of ESRD. With unknown diagnosis of PH, the patient received an isolated kidney graft and developed an early onset of graft failure. Although initially presumed as an acute rejection, the biopsy revealed calcium oxalate crystals, which then raised a suspicion of primary hyperoxaluria. The diagnosis was later confirmed by hyperoxaluria, elevated plasma oxalate levels and mutation of the AGXT gene, showing the patient to be compound heterozygous for the c.33_34InsC and c.508G > A mutations. Plasma oxalate levels did not decrease after high-dose pyridoxine treatment. Based on this case report, we would recommend in all patients even with a minor history of nephrolithiasis but progression to chronic renal failure to exclude primary hyperoxaluria before isolated kidney transplantation is considered.

Massive bone marrow involvement in an end stage renal failure case with erythropoietin-resistant anemia and primary hyperoxaluria

“…6 Serum and urine oxalate examinations cannot be carried out in routine biochemical laboratories; furthermore the AGT measurement of the liver biopsy which is the gold standard for the diagnosis can only be done by a few laboratories. 7 Due to the additional development of ESRD, the application of biochemical tests becomes more difficult. 7 In the presented case, due to the 4-year ESRD history and due to the case being anuric, the urinary oxalate measurements could not be carried out.…”

“…7 Due to the additional development of ESRD, the application of biochemical tests becomes more difficult. 7 In the presented case, due to the 4-year ESRD history and due to the case being anuric, the urinary oxalate measurements could not be carried out. Furthermore, the hepatic enzyme activities could not be analyzed and the calcium oxalate crystal depositions have led to the possible diagnosis of PH.…”

“…1,6 The kidneys play the most important role in excreting oxalate from the systemic circulation and due to the hyperoxaluria recurrent kidney stone formation, nephrocalcinosis and progressive renal failure develops. 3,5,7 The kidney dysfunction and decreased urinary excretion results in a rise in plasma oxalate and systemic deposition of over produced oxalate. Deposition is most common in the bones but can be found in all organs and tissues except the liver.…”

Primary and secondary hyperoxaluria: Understanding the enigma

“…In a survey by Hoppe et al [5] , 30% of the patients were diagnosed only when they had already reached ESRD. In some cases, the diagnosis may first be made when the disease recurs following renal transplant [6] . Hyperoxaluria continues to be a challenging disease and appropriate treatment requires a high index of suspicion and a timely diagnosis.…”

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

“…This rare autosomal recessive inborn disease is a result of glyoxylate metabolism defect, caused by an absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGXT). The kidney is the first organ affected by the massive rise in urinary oxalate through the genesis of recurrent stones and / or progressive nephrocalcinosis to finish in an early end-stage renal disease (ESRD) [1]. The increased plasma oxalate levels along the disease progress, and calcium oxalate deposition in various tissues leads to the systemic oxalosis, engendering serious complications as well as a fatal outcomes [2].…”