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

Pathology ◽  
2019 ◽  
Vol 51 (5) ◽  
pp. 557-561
Author(s):  
Nike Kwai Cheung Lau ◽  
Selina Ka Wai Ng ◽  
Iris Hiu Shuen Chan ◽  
Kwan Shun Ng ◽  
Jeffrey Sung Shing Kwok
Keyword(s):  
Urinary Bladder ◽  
Chinese Patient ◽  
Bladder Stone ◽  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency

scholarly journals Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

2021 ◽  
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
John A. Sayer ◽  
Olafur S. Indridason ◽  
Vidar O. Edvardsson ◽  
Brynjar O. Jensson ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Autosomal Recessive Disorder ◽  
European Population ◽  
Adenine Phosphoribosyltransferase ◽  
Genomic Databases ◽  
Pathogenic Variants ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Variation Database ◽  
The Uk ◽  
Aprt Deficiency

AbstractAdenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, although it has been suggested that missed diagnoses may play a role. We assessed the prevalence of APRT deficiency based on the frequency of causally-related APRT sequence variants in a diverse set of large genomic databases. A thorough search was carried out for all APRT variants that have been confirmed as pathogenic under recessive mode of inheritance, and the frequency of the identified variants examined in six population genomic databases: the deCODE genetics database, the UK Biobank, the 100,000 Genomes Project, the Genome Aggregation Database, the Human Genetic Variation Database and the Korean Variant Archive. The estimated frequency of homozygous genotypes was calculated using the Hardy-Weinberg equation. Sixty-two pathogenic APRT variants were identified, including six novel variants. Most common were the missense variants c.407T>C (p.(Met136Thr)) in Japan and c.194A>T (p.(Asp65Val)) in Iceland, as well as the splice-site variant c.400 + 2dup (p.(Ala108Glufs*3)) in the European population. Twenty-nine variants were detected in at least one of the six genomic databases. The highest cumulative minor allele frequency (cMAF) of pathogenic variants outside of Japan and Iceland was observed in the Irish population (0.2%), though no APRT deficiency cases have been reported in Ireland. The large number of cases in Japan and Iceland is consistent with a founder effect in these populations. There is no evidence for widespread underdiagnosis based on the current analysis.

scholarly journals Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects

2019 ◽  
Vol 128 (1-2) ◽  
pp. 144-150
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
Runolfur Palsson ◽  
Unnur A. Thorsteinsdottir ◽  
Olafur S. Indridason ◽  
Inger M.Sch. Agustsdottir ◽  
...  
Keyword(s):  
Adenine Phosphoribosyltransferase ◽  
Control Subjects ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Healthy Control

scholarly journals The chicken or the egg story: which came first, epigastric hernia in a patient with huge urinary bladder stone

2009 ◽  
Vol 2009 (dec03 1) ◽  
pp. bcr0920092236-bcr0920092236
Author(s):  
A. M. Wani ◽  
W. M. Hussain ◽  
M. I. Fatani ◽  
S. H. Raja ◽  
K. S. Ali ◽  
...  
Keyword(s):  
Urinary Bladder ◽  
Bladder Stone ◽  
Epigastric Hernia

Obstructive uropathy from a giant urinary bladder stone: a rare urological emergency

2021 ◽  
Vol 14 (1) ◽  
pp. e234339
Author(s):  
Subhabrata Mukherjee ◽  
Rajan Kumar Sinha ◽  
Mussab Hamdoon ◽  
Jai Abbaraju
Keyword(s):  
Urinary Tract ◽  
Urinary Bladder ◽  
Obstructive Uropathy ◽  
Outlet Obstruction ◽  
Emergency Admission ◽  
Urethral Catheter ◽  
Bladder Stone ◽  
Urinary Flow ◽  
Ultrasound Scan ◽  
Tract Infections

A 53-year-old man presented with lower urinary tract symptoms and recurrent urinary tract infections since last 3 years without being investigated or treated properly. Examination revealed a hard mobile lump in the pelvis, and blood investigations showed raised serum creatinine of 2.9 mg/dL. Subsequent urgent ultrasound scan showed a large urinary bladder stone with bilateral hydroureteronephrosis, and X-ray kidney, ureter and bladder demonstrated a 9 cm×6 cm elliptical radio-opaque shadow in the pelvis. He underwent emergency admission followed by open cystolithotomy on the next day. He was discharged after 48 hours with a urethral catheter. After 2 weeks, his renal function recovered completely; repeat ultrasound scan revealed complete resolution of hydronephrosis. Urethral catheter was removed following a normal cystogram. Uroflowmetry after 6 weeks revealed underlying bladder outlet obstruction, and he was started on alpha blocker which improved his urinary flow.

scholarly journals Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis

2017 ◽  
Vol 3 (1) ◽  
pp. 49-51 ◽  
Author(s):  
Ata Jaffer ◽  
Adrian Joyce ◽  
Philip Koenig ◽  
Chandra Shekhar Biyani
Keyword(s):  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency
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