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

Lau, Nike Kwai Cheung; Ng, Selina Ka Wai; Chan, Iris Hiu Shuen; Ng, Kwan Shun; Kwok, Jeffrey Sung-Shing

doi:10.1016/j.pathol.2019.02.008

Cited by 2 publications

(3 citation statements)

References 12 publications

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“…Even though both patients are compound heterozygotes of variants c.484_486del (p.Leu162del) and c.270del (p.Lys91Serfs*46) in APRT , Patient 1 (male) presented with AKI secondary to obstructive uropathy, while Patient 2 (female), was asymptomatic. This was similarly observed in siblings who share the same biallelic APRT variants where the males were symptomatic while the females remained asymptomatic with detection through cascade testing 13,14 . Thus, gender may contribute to the difference in the severity of their clinical presentations.…”

Section: Discussionmentioning

confidence: 71%

“…This was similarly observed in siblings who share the same biallelic APRT variants where the males were symptomatic while the females remained asymptomatic with detection through cascade testing. 13,14 Thus, gender may contribute to the difference in the severity of their clinical presentations. In mouse models, APRT deficient male mice seem to have greater severity of the disease.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 71%

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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“…Moreover, in the analysis of urinary sediment, a high amount of dispersed pellet of light brown material, unclassifiable on optical microscopy and initially indicated as possible faecal origin, was observed in the background. ATR/FT-IR spectrum obtained from the light brown material was identified as Keratin, with 901/1000 overlapping with the reference spectrum of the compound present in Spectra Nicodom IR Library [ 9 ] ( Fig. 1 ).…”

Section: Case Descriptionmentioning

confidence: 99%

A case report: Use of FT-IR analysis to improve Colovesical fistula diagnosis

Rapi

Bonari

Dugheri

et al. 2021

Practical Laboratory Medicine

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Colovesical fistula (CVF) is an abnormal connection between the colon and the urinary bladder. Faecaluria, reported in 40–70% of cases, is virtually pathognomonic for CVF. During the 5th day of recovery in an 84 years old subject, the passage of cloudy, malodorous urine with visible debris was observed. According to the pathognomonic character of faecaluria, the sample was signed to the laboratory for biochemical and microbiological investigation, able to define the type and origin of materials. Following clinical requirements, both biochemical pathways and instrumental procedures able to confirm or exclude the presence of faecal components in urine were considered. No biochemical compound or component addressing faecal compounds in urine results available between laboratory tests. The brown powder component of the pellet was identified as Keratin, with 90% overlapping with the reference spectrum of the compound. FT-IR analysis on urine pellet can be proposed as a simple, non-invasive, and fast method to improve the diagnostic course of CVF.

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

Cited by 2 publications

References 12 publications

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

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

A case report: Use of FT-IR analysis to improve Colovesical fistula diagnosis

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