Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

RF. Grace, P. Bianchi, EJ. van Beers, SW. Eber, B. Glader, HM. Yaish, JM. Despotovic, JA. Rothman, M. Sharma, MM. McNaull, E. Fermo, K. Lezon-Geyda, DH. Morton, EJ. Neufeld, S. Chonat, N. Kollmar, CM. Knoll, K. Kuo, JL. Kwiatkowski, D....

. 2018 ; 131 (20) : 2183-2192. [pub] 20180316

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19028519

An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment for 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia that required transfusions, hyperbilirubinemia, hydrops, and prematurity. Nearly all newborns were treated with phototherapy (93%), and many were treated with exchange transfusions (46%). Children age 5 years and younger were often transfused until splenectomy. Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden in 90% of patients. Predictors of a response to splenectomy included higher presplenectomy hemoglobin (P = .007), lower indirect bilirubin (P = .005), and missense PKLR mutations (P = .0017). Postsplenectomy thrombosis was reported in 11% of patients. The most frequent complications included iron overload (48%) and gallstones (45%), but other complications such as aplastic crises, osteopenia/bone fragility, extramedullary hematopoiesis, postsplenectomy sepsis, pulmonary hypertension, and leg ulcers were not uncommon. Overall, 87 (34%) of 254 patients had both a splenectomy and cholecystectomy. In those who had a splenectomy without simultaneous cholecystectomy, 48% later required a cholecystectomy. Although the risk of complications increases with severity of anemia and a genotype-phenotype relationship was observed, complications were common in all patients with PK deficiency. Diagnostic testing for PK deficiency should be considered in patients with apparent congenital hemolytic anemia and close monitoring for iron overload, gallstones, and other complications is needed regardless of baseline hemoglobin. This trial was registered at www.clinicaltrials.gov as #NCT02053480.

Ann and Robert H Lurie Children's Hospital of Chicago Chicago IL

Central Pennsylvania Clinic for Special Children and Adults Belleville PA Lancaster General Hospital Lancaster PA

Centre Hospitalier Universitaire Sainte Justine Montreal QC Canada

Charite Berlin Germany

Children's Hospital of Michigan Wayne State University School of Medicine Detroit MI

Children's Hospital of Pennsylvania and Perelman School of Medicine of the University of Pennsylvania Philadelphia PA

Children's Mercy Hospital Kansas City MO

Dana Farber Boston Children's Cancer and Blood Disorder Center Boston MA

DDC Clinic for Special Needs Children Middlefield OH

Division of Pediatric Hematology and Oncology Medical Center Faculty of Medicine University of Freiburg Freiburg Germany

Duke University Medical Center Durham NC

Emory University School of Medicine Aflac Cancer and Blood Disorders Center Children's Healthcare of Atlanta Atlanta GA

Fakultni Nemocnice Olomouc Olomouc Czech Republic

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Klinikum Kassel GmbH Kassel Germany

Lucile Packard Children's Hospital Stanford University Palo Alto CA

McMaster University Hamilton ON Canada

Nationwide Children's Hospital The Ohio State University College of Medicine Columbus OH

Phoenix Children's Hospital Phoenix AZ

Primary Children's Hospital University of Utah Salt Lake City UT

Schwerpunktpraxis für Pädiatrische Hämatologie Onkologie Munich Germany

St Jude Children's Research Hospital Memphis TN

Texas Children's Hematology Center Baylor College of Medicine Houston TX

The University of Vermont Children's Hospital Burlington VT

Universitair Medisch Centrum Utrecht Utrecht The Netherlands

University of Massachusetts Memorial Children's Medical Center Worcester MA

University of Mississippi Medical Center Jackson MS

University of Toronto University Health Network Toronto ON Canada

Weill Cornell Medical College New York Presbyterian Hospital New York NY

Yale University School of Medicine New Haven CT

Zentrum für Kunder und Jugendmedizin Heidelberg Germany

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc19028519
003      
CZ-PrNML
005      
20190819121535.0
007      
ta
008      
190813s2018 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1182/blood-2017-10-810796 $2 doi
035    __
$a (PubMed)29549173
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Grace, Rachael F $u Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
245    10
$a Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study / $c RF. Grace, P. Bianchi, EJ. van Beers, SW. Eber, B. Glader, HM. Yaish, JM. Despotovic, JA. Rothman, M. Sharma, MM. McNaull, E. Fermo, K. Lezon-Geyda, DH. Morton, EJ. Neufeld, S. Chonat, N. Kollmar, CM. Knoll, K. Kuo, JL. Kwiatkowski, D. Pospíšilová, YD. Pastore, AA. Thompson, PE. Newburger, Y. Ravindranath, WC. Wang, MW. Wlodarski, H. Wang, S. Holzhauer, VR. Breakey, J. Kunz, S. Sheth, MJ. Rose, HA. Bradeen, N. Neu, D. Guo, H. Al-Sayegh, WB. London, PG. Gallagher, A. Zanella, W. Barcellini,
520    9_
$a An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment for 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia that required transfusions, hyperbilirubinemia, hydrops, and prematurity. Nearly all newborns were treated with phototherapy (93%), and many were treated with exchange transfusions (46%). Children age 5 years and younger were often transfused until splenectomy. Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden in 90% of patients. Predictors of a response to splenectomy included higher presplenectomy hemoglobin (P = .007), lower indirect bilirubin (P = .005), and missense PKLR mutations (P = .0017). Postsplenectomy thrombosis was reported in 11% of patients. The most frequent complications included iron overload (48%) and gallstones (45%), but other complications such as aplastic crises, osteopenia/bone fragility, extramedullary hematopoiesis, postsplenectomy sepsis, pulmonary hypertension, and leg ulcers were not uncommon. Overall, 87 (34%) of 254 patients had both a splenectomy and cholecystectomy. In those who had a splenectomy without simultaneous cholecystectomy, 48% later required a cholecystectomy. Although the risk of complications increases with severity of anemia and a genotype-phenotype relationship was observed, complications were common in all patients with PK deficiency. Diagnostic testing for PK deficiency should be considered in patients with apparent congenital hemolytic anemia and close monitoring for iron overload, gallstones, and other complications is needed regardless of baseline hemoglobin. This trial was registered at www.clinicaltrials.gov as #NCT02053480.
650    _2
$a mladiství $7 D000293
650    _2
$a dospělí $7 D000328
650    _2
$a hemolytická nesférocytická kongenitální anemie $x diagnóza $x etiologie $x metabolismus $x terapie $7 D000746
650    _2
$a krevní transfuze $7 D001803
650    _2
$a dítě $7 D002648
650    _2
$a předškolní dítě $7 D002675
650    _2
$a cholecystektomie $x škodlivé účinky $x metody $7 D002763
650    _2
$a kombinovaná terapie $7 D003131
650    _2
$a aktivace enzymů $7 D004789
650    _2
$a ženské pohlaví $7 D005260
650    12
$a genetické asociační studie $7 D056726
650    _2
$a genotyp $7 D005838
650    _2
$a lidé $7 D006801
650    _2
$a kojenec $7 D007223
650    _2
$a novorozenec $7 D007231
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a lidé středního věku $7 D008875
650    _2
$a mutace $7 D009154
650    _2
$a fenotyp $7 D010641
650    _2
$a pyruvátkinasa $x nedostatek $x metabolismus $7 D011770
650    _2
$a vrozené poruchy metabolismu pyruvátu $x diagnóza $x etiologie $x metabolismus $x terapie $7 D015323
650    _2
$a splenektomie $x škodlivé účinky $x metody $7 D013156
650    _2
$a určení symptomu $7 D063189
650    _2
$a výsledek terapie $7 D016896
650    _2
$a mladý dospělý $7 D055815
655    _2
$a časopisecké články $7 D016428
655    _2
$a multicentrická studie $7 D016448
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Bianchi, Paola $u Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
700    1_
$a van Beers, Eduard J $u Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands.
700    1_
$a Eber, Stefan W $u Schwerpunktpraxis für Pädiatrische Hämatologie-Onkologie, Munich, Germany.
700    1_
$a Glader, Bertil $u Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA.
700    1_
$a Yaish, Hassan M $u Primary Children's Hospital, University of Utah, Salt Lake City, UT.
700    1_
$a Despotovic, Jenny M $u Texas Children's Hematology Center, Baylor College of Medicine, Houston, TX.
700    1_
$a Rothman, Jennifer A $u Duke University Medical Center, Durham, NC.
700    1_
$a Sharma, Mukta $u Children's Mercy Hospital, Kansas City, MO.
700    1_
$a McNaull, Melissa M $u University of Mississippi Medical Center, Jackson, MS.
700    1_
$a Fermo, Elisa $u Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
700    1_
$a Lezon-Geyda, Kimberly $u Yale University School of Medicine, New Haven, CT.
700    1_
$a Morton, D Holmes $u Central Pennsylvania Clinic for Special Children and Adults, Belleville, PA. Lancaster General Hospital, Lancaster, PA.
700    1_
$a Neufeld, Ellis J $u St. Jude Children's Research Hospital, Memphis, TN.
700    1_
$a Chonat, Satheesh $u Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA.
700    1_
$a Kollmar, Nina $u Klinikum Kassel GmbH, Kassel, Germany.
700    1_
$a Knoll, Christine M $u Phoenix Children's Hospital, Phoenix, AZ.
700    1_
$a Kuo, Kevin $u University of Toronto, University Health Network, Toronto, ON, Canada.
700    1_
$a Kwiatkowski, Janet L $u Children's Hospital of Pennsylvania and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA.
700    1_
$a Pospíšilová, Dagmar $u Fakultni Nemocnice Olomouc, Olomouc, Czech Republic.
700    1_
$a Pastore, Yves D $u Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada.
700    1_
$a Thompson, Alexis A $u Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
700    1_
$a Newburger, Peter E $u University of Massachusetts Memorial Children's Medical Center, Worcester, MA.
700    1_
$a Ravindranath, Yaddanapudi $u Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI.
700    1_
$a Wang, Winfred C $u St. Jude Children's Research Hospital, Memphis, TN.
700    1_
$a Wlodarski, Marcin W $u Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
700    1_
$a Wang, Heng $u DDC Clinic for Special Needs Children, Middlefield, OH.
700    1_
$a Holzhauer, Susanne $u Charite, Berlin, Germany.
700    1_
$a Breakey, Vicky R $u McMaster University, Hamilton, ON, Canada.
700    1_
$a Kunz, Joachim $u Zentrum für Kunder-und Jugendmedizin, Heidelberg, Germany.
700    1_
$a Sheth, Sujit $u Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY.
700    1_
$a Rose, Melissa J $u Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH; and.
700    1_
$a Bradeen, Heather A $u The University of Vermont Children's Hospital, Burlington, VT.
700    1_
$a Neu, Nolan $u Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
700    1_
$a Guo, Dongjing $u Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
700    1_
$a Al-Sayegh, Hasan $u Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
700    1_
$a London, Wendy B $u Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
700    1_
$a Gallagher, Patrick G $u Yale University School of Medicine, New Haven, CT.
700    1_
$a Zanella, Alberto $u Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
700    1_
$a Barcellini, Wilma $u Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
773    0_
$w MED00000807 $t Blood $x 1528-0020 $g Roč. 131, č. 20 (2018), s. 2183-2192
856    41
$u https://pubmed.ncbi.nlm.nih.gov/29549173 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20190813 $b ABA008
991    __
$a 20190819121809 $b ABA008
999    __
$a ok $b bmc $g 1433668 $s 1066979
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2018 $b 131 $c 20 $d 2183-2192 $e 20180316 $i 1528-0020 $m Blood $n Blood $x MED00000807
LZP    __
$a Pubmed-20190813

Najít záznam

Citační ukazatele

Možnosti archivace