Primary hyperoxaluria in an adult male : a rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed

Abstract EN

Primary hyperoxaluria is an autosomal recessive disorder due to a deficiency in the activity of the peroxisomal hepatic enzyme alanine-glyoxylate aminotransferase.

It is a common cause of urolithiasis and end-stage kidney disease in children contrary to the adult phenotypic presentation which is considered a mild disorder with occasional urolithiasis.

In this case report, we describe a 25-year-old man who presented with advanced and irreversible kidney failure within three months following strenuous physical training in the police academy.

He had nephrocalcinosis and stones in one kidney.

Diagnosis was confirmed by establishing the existence of extensive tubular and interstitial crystal deposition in his kidneys and molecular genetic testing.

The case illustrates the need to establish an early diagnosis of this disorder to prevent the need for combined liver and kidney transplantation.