Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency

Abstract

APRT deficiency should be considered in patients with multiple radiolucent renal calculi.

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review

“…He first presented acutely when he was 17 months' old with obstructive uropathy requiring continuous kidney replacement therapy (CKRT) and surgical removal of kidney calculi. 9 He was diagnosed with APRT deficiency when stone analysis performed via infrared spectrometry demonstrated that the presence of (p.Leu162del) is not present in population databases (gnomAD) 10 and has not been reported before in patients with APRT deficiency. In addition, there is lack of computational and functional evidence to support the pathogenicity of the variant, this variant was classified as variant of uncertain significance at the time of testing.…”

“…Patient 1 was previously well with no medical issues and was thriving. He first presented acutely when he was 17 months' old with obstructive uropathy requiring continuous kidney replacement therapy (CKRT) and surgical removal of kidney calculi 9 . He was diagnosed with APRT deficiency when stone analysis performed via infrared spectrometry demonstrated that the presence of DHA and red blood cell enzyme assay showed very low APRT activity (0.03 nmol/min/mg haemoglobin, normal 0.15–2.0 nmol/min/mg haemoglobin, residual enzyme activity: 3%).…”

Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient

“…There was a previous case report of APRT deficiency in a 17-month-old Chinese boy presenting with severe acute kidney injury secondary to obstructive uropathy from multiple renal calculi. 11 However, no genetic study was reported as the diagnosis was only made by infrared spectrometric stone analysis and red blood cell enzyme assay. Genetic characterisation would be helpful for better understanding of the genetic basis of APRT deficiency in the Chinese population and molecular testing strategy.…”

Bifidobacterium bifidum alleviates adenine-induced acute kidney injury in mice by improving intestinal barrier function

“…Adenine crystals are directly toxic to renal tubules during their accumulation and excretion into urine, which can cause obstruction of renal tubules and lead to AKI. 22 Therefore, in this study, an adenine-induced AKI mouse model was used to evaluate the therapeutic effects of B. bifidum FL228.1, FL276.1 and ZL.1 from different sources on the kidneys and intestines of AKI mice. By detecting the serum inflammation level, the intestinal barrier function and the gut microbiota composition, we explored the potential mechanism of action of Bifidobacterium in improving AKI mice.…”