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Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease
Esther Huimin Leow1, Indra Ganesan2, Siew Le Chong2
1Department of Paediatrics, Nephrology Service, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. Esther.Leow.H.M@singhealth.com.sg.
None:
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which causes high urinary 2,8-dihydroxyadenine (2,8-DHA) excretion, resulting in urolithiasis and crystal nephropathy. It is caused by mutations in the APRT gene. Even though it is an inherited kidney stone disease, the varied clinical presentations, even within a family with the same underlying genetic variants, can lead to delayed diagnosis with some only being recognized in adulthood and even, following a kidney transplant. First presentations include symptoms of reddish-brown diaper stains, urinary tract infections, urolithiasis, acute kidney injury from obstructive uropathy and/or intratubular 2,8-DHA crystallization or kidney failure. Siblings of index cases should be screened for APRT deficiency. An early diagnosis and treatment with xanthine oxidoreductase inhibitors (XORi) can preserve kidney function and/or prevent progressive kidney injury and kidney failure. In this review, we will discuss the pathophysiology, clinical presentations, investigations, and management of APRT deficiency.
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