Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10377534" target="_blank" >RIV/00216208:11110/18:10377534 - isvavai.cz</a>
Alternative codes found
RIV/61388963:_____/18:00492198 RIV/00023728:_____/18:N0000015
Result on the web
<a href="https://doi.org/10.1093/rheumatology/key041" target="_blank" >https://doi.org/10.1093/rheumatology/key041</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1093/rheumatology/key041" target="_blank" >10.1093/rheumatology/key041</a>
Alternative languages
Result language
angličtina
Original language name
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
Original language description
Objectives. Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis and acute kidney failure due to urate overproduction. Family history included a mother with tophaceous gout who developed end-stage kidney disease due to nephrolithiasis and an affected sister with polyarticular gout. The main aim of this study was to describe the clinical manifestations of PRPS1 superactivity in women. Methods. Whole exome sequencing was performed in affected females and their fathers. Results. Mutational analysis revealed a new c.520G>A (p.G174R) mutation in the PRPS1 gene. The mutation resulted in decreased PRPS1 inhibition by ADP. Conclusion. Clinical findings in previously reported females with PRPS1 superactivity showed a high clinical penetrance of this disorder with a mean serum urate level of 8.5 (4.1) mg/dl [506 (247) mmol/l] and a high prevalence of gout. These findings indicate that all women in families with PRPS1 superactivity should be genetically screened for a mutation (for clinical management and genetic counselling). In addition, women with tophaceous gout, gout presenting in childhood, or a strong family history of severe gout should be considered for PRPS1 mutational analysis.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Rheumatology
ISSN
1462-0324
e-ISSN
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Volume of the periodical
57
Issue of the periodical within the volume
7
Country of publishing house
GB - UNITED KINGDOM
Number of pages
6
Pages from-to
1180-1185
UT code for WoS article
000439968000009
EID of the result in the Scopus database
2-s2.0-85051474441