Ontology highlight
ABSTRACT:
SUBMITTER: Huq A
PROVIDER: S-EPMC6202999 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
BMJ case reports 20181023
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, ...[more]