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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
M. Zikánová, D. Wahezi, A. Hay, B. Stiburková, C. Pitts, D. Mušálková, V. Škopová, V. Barešová, O. Soucková, K. Hodanová, M. Živná, V. Stránecký, H. Hartmannová, A. Hnízda, AJ. Bleyer, S. Kmoch,
Language English Country England, Great Britain
Document type Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
Grant support
R21 DK106584
NIDDK NIH HHS - United States
NV15-28979A
MZ0
CEP Register
NV17-29786A
MZ0
CEP Register
Digital library NLK
Full text - Article
Full text - Article
Source
NLK
Free Medical Journals
from 1996 to 1 year ago
Open Access Digital Library
from 1996-01-01
Medline Complete (EBSCOhost)
from 1999-01-01 to 1 year ago
- MeSH
- Arthritis, Gouty etiology genetics MeSH
- Adult MeSH
- Genetic Diseases, X-Linked diagnosis genetics MeSH
- Humans MeSH
- Adolescent MeSH
- Molecular Structure MeSH
- Mutation MeSH
- Nephrolithiasis etiology genetics MeSH
- Purine-Pyrimidine Metabolism, Inborn Errors complications diagnosis genetics MeSH
- Ribose-Phosphate Pyrophosphokinase genetics metabolism MeSH
- Pedigree MeSH
- Whole Genome Sequencing methods MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
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.520 G > 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) μmol/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.
Pediatric Rheumatology Children's Hospital at Montefiore Bronx NY USA
Pediatric Rheumatology Nicklaus Children's Hospital Miami FL USA
Section on Nephrology Wake Forest School of Medicine Winston Salem NC
References provided by Crossref.org
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