Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.

ABSTRACT:

Introduction

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).

Patient concerns

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 strong family history of urolithiasis.

Diagnosis

Working up the patient suggested the diagnosis of PH1 based on the typical clinical, laboratory, and imaging findings which was genetically proved by positive AXGT gene mutation. The mutation detected was not previously reported in literature. The m

SUBMITTER: Abukhatwah MW 

PROVIDER: S-EPMC7310847 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature