• Je něco špatně v tomto záznamu ?

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

S. Mazurova, M. Tesarova, J. Zeman, V. Stranecky, H. Hansikova, A. Baxova, M. Giertlova, J. Lastuvkova, V. Chovanova, S. Rusnakova, M. Knapkova, G. Minarik, T. Honzik, M. Magner

. 2020 ; 47 (6) : 663-668. [pub] 20200406

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články, pozorovací studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc21012539

Grantová podpora
PROGRES Q26/LF1 Charles University, Czech Republic
UNCE 204064 Charles University, Czech Republic
RVO-VFN64165/2012 Ministry of Health, Czech Republic

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc21012539
003      
CZ-PrNML
005      
20220819111318.0
007      
ta
008      
210420s2020 xxk f 000 0|eng||
009      
AR
024    7_
$a 10.1111/1346-8138.15317 $2 doi
035    __
$a (PubMed)32250467
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxk
100    1_
$a Mazurová, Stella, $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic $d 1986- $7 xx0275932
245    10
$a Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency / $c S. Mazurova, M. Tesarova, J. Zeman, V. Stranecky, H. Hansikova, A. Baxova, M. Giertlova, J. Lastuvkova, V. Chovanova, S. Rusnakova, M. Knapkova, G. Minarik, T. Honzik, M. Magner
520    9_
$a Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.
650    _2
$a mladiství $7 D000293
650    _2
$a dítě $7 D002648
650    _2
$a předškolní dítě $7 D002675
650    _2
$a dentinogenesis imperfecta $x diagnóza $x genetika $x mortalita $7 D003811
650    _2
$a erbB receptory $x nedostatek $x genetika $7 D066246
650    _2
$a vrozené srdeční vady $x diagnóza $x genetika $x mortalita $7 D006330
650    _2
$a homozygot $7 D006720
650    _2
$a lidé $7 D006801
650    _2
$a ichtyóza $x diagnóza $x genetika $x mortalita $7 D007057
650    _2
$a kojenec $7 D007223
650    _2
$a novorozenec $7 D007231
650    _2
$a novorozenec nedonošený $7 D007234
650    _2
$a novorozenec s velmi nízkou porodní hmotností $7 D019102
650    _2
$a nemoci ledvin $x vrozené $x diagnóza $x genetika $x mortalita $7 D007674
650    _2
$a mutace ztráty funkce $7 D000073658
650    _2
$a Romové $x genetika $7 D006178
650    _2
$a stupeň závažnosti nemoci $7 D012720
650    _2
$a syndrom $7 D013577
650    _2
$a sekvenování exomu $7 D000073359
651    _2
$a Česká republika $x epidemiologie $7 D018153
651    _2
$a Slovenská republika $x epidemiologie $7 D018154
655    _2
$a časopisecké články $7 D016428
655    _2
$a pozorovací studie $7 D064888
700    1_
$a Tesarova, Marketa $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
700    1_
$a Zeman, Jiri $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
700    1_
$a Stranecky, Viktor $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
700    1_
$a Hansikova, Hana $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
700    1_
$a Baxova, Alica $u Institute of Biology and Medical Genetics, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
700    1_
$a Giertlova, Maria $u Laboratory of Clinical Genetics, Medirex Inc., Kosice, Slovak Republic
700    1_
$a Lastuvkova, Jana $u Department of Medical Genetics, Masaryk Hospital in Usti nad Labem, Regional Health Corporation, Usti nad Labem, Czech Republic
700    1_
$a Chovanova, Vanda $u Department of Neonatology, Pediatric University Hospital, Kosice, Slovak Republic
700    1_
$a Rusnakova, Simona $u Department of Neonatology, Pediatric University Hospital, Kosice, Slovak Republic
700    1_
$a Knapkova, Maria $u Newborn Screening Center Slovak Republic, Children's University Hospital, Banska Bystrica, Slovak Republic
700    1_
$a Minarik, Gabriel $u Laboratory of Genetics, Medirex Inc., Bratislava, Slovak Republic
700    1_
$a Honzik, Tomas $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
700    1_
$a Magner, Martin $u Department of Pediatrics and Adolescent Medicine, General University Hospital, First Medical Faculty, Charles University, Prague, Czech Republic $u Department of Pediatrics, Thomayer Hospital, First Medical Faculty, Charles University, Prague, Czech Republic
773    0_
$w MED00002635 $t The Journal of dermatology $x 1346-8138 $g Roč. 47, č. 6 (2020), s. 663-668
856    41
$u https://pubmed.ncbi.nlm.nih.gov/32250467 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20210420 $b ABA008
991    __
$a 20220819111311 $b ABA008
999    __
$a ok $b bmc $g 1650828 $s 1132918
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2020 $b 47 $c 6 $d 663-668 $e 20200406 $i 1346-8138 $m Journal of dermatology $n J Dermatol $x MED00002635
GRA    __
$a PROGRES Q26/LF1 $p Charles University, Czech Republic
GRA    __
$a UNCE 204064 $p Charles University, Czech Republic
GRA    __
$a RVO-VFN64165/2012 $p Ministry of Health, Czech Republic
LZP    __
$a Pubmed-20210420

Najít záznam

Citační ukazatele

Možnosti archivace