Ontology highlight
ABSTRACT:
SUBMITTER: Abukhatwah MW
PROVIDER: S-EPMC7310847 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Abukhatwah Mohamed W MW Almalki Samia H SH Althobaiti Mohammed S MS Alharbi Abdulla O AO Almalki Najla K NK Kamal Naglaa M NM
Medicine 20200601 25
<h4>Introduction</h4>Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and end stage renal disease (ESRD).<h4>Patient concerns</h4>A 13 years old Saudi boy with history of recurrent urolithiasis since the age of 2 years presented to us with picture of ESRD. He has stron ...[more]