Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.
Acute Kidney Injury
/ diagnosis
Adenine
/ analogs & derivatives
Adenine Phosphoribosyltransferase
/ deficiency
Allopurinol
/ therapeutic use
Crystallization
Enzyme Inhibitors
/ therapeutic use
Female
Humans
Infant
Kidney Calculi
/ diagnosis
Metabolism, Inborn Errors
/ complications
Treatment Outcome
Urolithiasis
/ complications
Xanthine Oxidase
/ antagonists & inhibitors
Journal
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
ISSN: 1319-2442
Titre abrégé: Saudi J Kidney Dis Transpl
Pays: Saudi Arabia
ID NLM: 9436968
Informations de publication
Date de publication:
Historique:
entrez:
29
6
2019
pubmed:
30
6
2019
medline:
8
1
2020
Statut:
ppublish
Résumé
Adenine phosphoribosyltransferase deficiency is an inherited condition presenting from infancy to late adulthood. The common features are recurrent kidney and urinary tract stones and obstructive symptoms. The stones are characteristically radiolucent. 2, 8-Dihydroxyadenine (2, 8-DHA) formation is blocked by xanthine oxidase blocker allopurinol. Here, we report the case of an eight-month-old baby girl who presented with obstructive acute kidney injury secondary to calculi which was treated with surgical removal of stone. The analysis of the calculi revealed 2, 8-DHA crystals.
Identifiants
pubmed: 31249241
pii: SaudiJKidneyDisTranspl_2019_30_3_723_261357
doi: 10.4103/1319-2442.261357
doi:
Substances chimiques
Enzyme Inhibitors
0
2,8-dihydroxyadenine
30377-37-8
Allopurinol
63CZ7GJN5I
Xanthine Oxidase
EC 1.17.3.2
Adenine Phosphoribosyltransferase
EC 2.4.2.7
Adenine
JAC85A2161
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM