Primary hyperoxaluria: the adult nephrologist's point of view

Abstract

In adults, primary hyperoxaluria (PH) does not always present as obviously as in children, leading to delayed or even missed diagnosis. When diagnosed in adulthood, PH usually progresses at a slower rate and the focus is on the prevention of recurrent kidney stones as much as it is on the preservation of renal function. The most tragic presentation is when the diagnosis is made after primary non-function of a renal graft for treating previously unknown renal disease. Recurrent stones, nephrocalcinosis and features of systemic oxalosis can all be presenting features. For these reasons, consideration should be given to screening for this rare condition, using biochemical and/or genetic means, but being careful to exclude common differential diagnoses. Such efforts should be synchronized with diagnostic methods for other rare kidney diseases.

Molecular Analysis of the AGXT Gene Detected a Missense and Pathogenic Variant Associated with Primary Hyperoxaluria Type 1; a Case Study

“…In hepatocytes' peroxisomes,aninsu cient amount of AGT disrupts the metabolism of glyoxylate leading to over production of oxalate which is excreted through urination [19]. Urine oxalates have a primary role in the formation of kidney stones and kidney damage due to Chronic Kidney Disease (CKD) in stage 1-3a [2].The excess of oxalate precipitation in urine produces calcium oxalate (CaOx) crystals in the kidneys [7], which appear as the rst symptom of PH1 [20]. PH1 is the most prevalent type of primary hyperoxaluria (PH) with serious consequences [3] causing End-Stage Renal Disease (ESRD) in the majority of patients during their rst 2-3 decades [5] or upto sixth decade of life [6].…”