2,8-Dihydroxyadenine Urolithiasis. Case Report and Literature Review

Arancio, M.; Ranzoni, S.; Delsignore, A.; Landi, Giuseppe; Maffei, N.; Marcato, M; Mina, Alessandro; Martinengo, C.

doi:10.5301/ru.2011.8307

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…A longer follow up period is needed before we draw the conclusion that early identification of APRT deficiency preserved the renal function in our case. In contrast, studies in adults (where many cases were in the fourth or fifth decades of life) the main presenting feature was crystalline nephropathy and ESRD which necessitated chronic replacement therapy and eventually renal transplantation [6,7]. These reports imply that APRT deficiency is an under-recognized cause of kidney stones and chronic kidney disease that eventually progresses to ESRD in a significant proportion of untreated patients.…”

Section: Discussionmentioning

confidence: 55%

Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy

Hussein¹,

Elderwy²

2015

J Kidney

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Section: Discussionmentioning

confidence: 55%

Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy

Hussein¹,

Elderwy²

2015

J Kidney

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“…There are reports of patients with APRT deficiency undergoing living related kidney transplantations (Supplementary Tables 1 and 2). 18–54 Therefore, clinical screening or genetic testing of relatives of potential living related kidney donors should be considered.…”

Section: Discussionmentioning

confidence: 99%

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

Leow,

Chong,

Tan

et al. 2023

Nephrology

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Adenine phosphoribosyl transferase (APRT) deficiency is an autosomal recessive disorder and a rare cause of urolithiasis due to mutations in APRT (OMIM #102600). APRT deficiency results in increased urinary excretion of 2,8‐dihydroxyadenine (DHA) which can cause urolithiasis and kidney failure. However, with prompt diagnosis, patients with APRT deficiency can be treated with xanthine oxidoreductase inhibitors which decrease urinary DHA excretion and improve outcomes. We report a pair of siblings, an 11‐year‐old brother and his 14‐year‐old sister with compound heterozygous variants c.270del (p.Lys91Serfs*46) and c.484_486del (p.Leu162del) in APRT with variable clinical presentation of APRT deficiency. The brother presented at 17 months of age with urolithiasis and severe acute kidney injury. His elder sister remained well and asymptomatic with normal kidney function and did not develop renal calculi. Brownish disk or sphere‐like crystals with both concentric and radial markings were reported on urine microscopy in the sister on screening. The sister's diagnosis was confirmed with further laboratory evidence of absent red cell lysate APRT activity with corresponding elevated levels of urinary DHA. In conclusion, we identified a novel mutation in the APRT gene in a pair of siblings with greater phenotypic severity in the male.

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In ovo feeding of vitamin C regulates splenic development through purine nucleotide metabolism and induction of apoptosis in broiler chickens

Zhu

Wang

et al. 2020

Br J Nutr

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The nutrition condition of earlier life has a long-term influence on health of its later period. In order to the explore effects of in ovo feeding of vitamin C on splenic development, splenic metabolism and apoptosis were detected in embryo, adult chickens and in vitro. A total of 360 fertile eggs were selected and randomly assigned to 2 treatments: the control group (CON) and vitamin C group (VC) were injected with saline and vitamin C on embryonic day 11, respectively. Functional enrichment of differentially expressed genes by transcriptome on embryonic day 19 suggested that purine nucleotide metabolism might be a potential pathway for the in ovo feeding of vitamin C to regulate spleen development. Additionally, the in ovo feeding of vitamin C significantly increased splenic vitamin C content on post-hatch day 21. Meanwhile, the splenic expression of adenosine deaminase, serine/threonine kinase 1 and proliferating cell nuclear antigen were down-regulated, whereas the expression of cysteinyl aspartate specific proteinase 9 was up-regulated in VC group. On post-hatch day 42, the in ovo feeding of vitamin C significantly down-regulated the splenic expression of B-cell lymphoma 2, and increased the mRNA level of cysteinyl aspartate specific proteinase 9. The in ovo feeding of vitamin C could regulate the expression of genes related to adenylate metabolism and increased the apoptosis rate in vitro, which consistent with the result in vivo. Together, these results illustrated that the in ovo feeding of vitamin C regulated splenic development and maturation by affecting purine nucleotide metabolism pathway and promoting apoptosis.

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2,8-Dihydroxyadenine Urolithiasis. Case Report and Literature Review

Cited by 3 publications

References 12 publications

Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy

Rare Radiolucent Hydroxyadenine Renal Stones in 4 Years Old Boy

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

In ovo feeding of vitamin C regulates splenic development through purine nucleotide metabolism and induction of apoptosis in broiler chickens

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