Genetically Confirmed Hyperoxaluria in Iranian Children-A Multicenter Survey

Abstract

Introduction. Primary hyperoxaluria (PH) is a rare autosomal recessive disorder characterized by a heterogeneous presentation that leads to kidney failure and involvement of other organs. The aim of this study was to determine the number of cases with suspected PH in Iran that have had a genetically verified diagnosis. Methods. A survey distributed among members of Iranian society of pediatric nephrology (IranSPN) to collect overall data on hyperoxaluria (HOX) in their centers, as well as those who performed whole exome sequencing (WES) or sanger sequencing genetic study. Data is presented as frequency and number blocks. Results. Nineteen out of 130 members filled out the questionnaires. About two-thirds of the responders were suspected to have HOX in the presence of recurrent multiple kidney stones. PH was genetically confirmed in 80 children above 10 years. Alanine-Glyoxylate Aminotransferase (AGXT) was the most frequent reported genetic abnormailtiy. The majority of their patients required kidney replacement therapy. Combined or sequential liver-kidney transplantation was less frequent. Conservative treatment was the only therapy applied to all children prior to end-stage kidney disease. Conclusion. This simple survey revealed that definitive diagnosis of PH occurs at older age accompanied with higher rate of kidney transplantation.