• Je něco špatně v tomto záznamu ?

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,

. 2018 ; 57 (7) : 1180-1185. [pub] 20180701

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu kazuistiky, časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19028081

Grantová podpora
R21 DK106584 NIDDK NIH HHS - United States
NV15-28979A MZ0 CEP - Centrální evidence projektů
NV17-29786A MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc19028081
003      
CZ-PrNML
005      
20201030125232.0
007      
ta
008      
190813s2018 enk f 000 0|eng||
009      
AR
024    7_
$a 10.1093/rheumatology/key041 $2 doi
035    __
$a (PubMed)30423175
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a enk
100    1_
$a Zikánová, Marie $7 xx0248652 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
245    10
$a Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females / $c 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,
520    9_
$a 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.
650    _2
$a mladiství $7 D000293
650    _2
$a dospělí $7 D000328
650    _2
$a dnavá artritida $x etiologie $x genetika $7 D015210
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a genetické nemoci vázané na chromozom X $x diagnóza $x genetika $7 D040181
650    _2
$a lidé $7 D006801
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a molekulární struktura $7 D015394
650    _2
$a mutace $7 D009154
650    _2
$a nefrolitiáza $x etiologie $x genetika $7 D053040
650    _2
$a rodokmen $7 D010375
650    _2
$a poruchy metabolismu purinů a pyrimidinů $x komplikace $x diagnóza $x genetika $7 D011686
650    _2
$a ribosafosfátpyrofosfokinasa $x genetika $x metabolismus $7 D012268
650    _2
$a sekvenování celého genomu $x metody $7 D000073336
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
655    _2
$a Research Support, N.I.H., Extramural $7 D052061
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Wahezi, Dawn $u Pediatric Rheumatology, Children's Hospital at Montefiore, Bronx, NY, USA.
700    1_
$a Hay, Arielle $u Pediatric Rheumatology, Nicklaus Children's Hospital, Miami, FL, USA.
700    1_
$a Stiburková, Blanka $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. Institute of Rheumatology, Prague, Czech Republic.
700    1_
$a Pitts, Charles $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.
700    1_
$a Mušálková, Dita $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Škopová, Václava $7 xx0248662 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Barešová, Veronika $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Součková, Olga $7 xx0248653 $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Hodanová, Katerina $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Živná, Martina $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Stránecký, Viktor $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Hartmannová, Hana $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
700    1_
$a Hnízda, Ales $u Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, Prague, Czech Republic.
700    1_
$a Bleyer, Anthony J $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.
700    1_
$a Kmoch, Stanislav $u Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.
773    0_
$w MED00011379 $t Rheumatology (Oxford, England) $x 1462-0332 $g Roč. 57, č. 7 (2018), s. 1180-1185
856    41
$u https://pubmed.ncbi.nlm.nih.gov/30423175 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20190813 $b ABA008
991    __
$a 20201030125229 $b ABA008
999    __
$a ok $b bmc $g 1433230 $s 1066541
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2018 $b 57 $c 7 $d 1180-1185 $e 20180701 $i 1462-0332 $m Rheumatology $n Rheumatology (Oxford) $x MED00011379
GRA    __
$a R21 DK106584 $p NIDDK NIH HHS $2 United States
GRA    __
$a NV15-28979A $p MZ0
GRA    __
$a NV17-29786A $p MZ0
LZP    __
$a Pubmed-20190813

Najít záznam

Citační ukazatele

Možnosti archivace