Characterization of the severe phenotype of pyruvate kinase deficiency

被引:9
作者
Al-Samkari, Hanny [1 ]
van Beers, Eduard J. [2 ]
Morton, D. Holmes [3 ,4 ]
Barcellini, Wilma [5 ]
Eber, Stefan W. [6 ]
Glader, Bertil [7 ]
Yaish, Hassan M. [8 ]
Chonat, Satheesh [9 ]
Kuo, Kevin H. M. [10 ]
Kollmar, Nina [11 ]
Despotovic, Jenny M. [12 ]
Pospisilova, Dagmar [13 ]
Knoll, Christine M. [14 ]
Kwiatkowski, Janet L. [15 ,16 ]
Pastore, Yves D. [17 ]
Thompson, Alexis A. [18 ]
Wlodarski, Marcin W. [19 ,20 ]
Ravindranath, Yaddanapudi [21 ]
Rothman, Jennifer A. [22 ]
Wang, Heng [23 ]
Holzhauer, Susanne [24 ]
Breakey, Vicky R. [25 ]
Verhovsek, Madeleine M. [25 ]
Kunz, Joachim [26 ]
Sheth, Sujit [27 ]
Sharma, Mukta [28 ]
Rose, Melissa J. [29 ]
Bradeen, Heather A. [30 ]
McNaull, Melissa N. [31 ]
Addonizio, Kathryn [32 ]
Al-Sayegh, Hasan [32 ]
London, Wendy B. [32 ]
Grace, Rachael F. [32 ]
机构
[1] Harvard Med Sch, Massachusetts Gen Hosp, Div Hematol, Boston, MA 02115 USA
[2] Univ Med Ctr Utrecht, Utrecht, Netherlands
[3] Cent Penn Clin Special Children & Adults, Belleville, PA USA
[4] Lancaster Gen Hosp, Lancaster, PA USA
[5] Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Milan, Italy
[6] Tech Univ, Schwerpunktpraxis Padiat Hamatol Onkol Childrens, Munich, Germany
[7] Stanford Univ, Lucile Packard Childrens Hosp, Palo Alto, CA USA
[8] Univ Utah, Primary Childrens Hosp, Salt Lake City, UT USA
[9] Emory Univ, Sch Med, Childrens Healthcare Atlanta, Aflac Canc & Blood Disorders Ctr, Atlanta, GA USA
[10] Univ Toronto, Univ Hlth Network, Toronto, ON, Canada
[11] Klinikum Kassel GmbH, Kassel, Germany
[12] Baylor Coll Med, Texas Childrens Hematol Ctr, Houston, TX 77030 USA
[13] Fak Nemocnice Olomouc, Olomouc, Czech Republic
[14] Phoenix Childrens Hosp, Phoenix, AZ USA
[15] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
[16] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
[17] CHU St Justine, Montreal, PQ, Canada
[18] Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
[19] St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA
[20] Univ Freiburg, Freiburg, Germany
[21] Wayne State Univ, Childrens Hosp Michigan, Sch Med, Detroit, MI USA
[22] Duke Univ, Med Ctr, Durham, NC USA
[23] DDC Clin Special Needs Children, Middlefield, OH USA
[24] Charite, Berlin, Germany
[25] McMaster Univ, Hamilton, ON, Canada
[26] Zentrum Kinder & Jugendmed, Heidelberg, Germany
[27] New York Presbyterian Hosp, Weill Cornell Med Coll, New York, NY USA
[28] Univ Missouri Kansas City, Sch Med, Childrens Mercy, Kansas City, MO USA
[29] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Columbus, OH 43210 USA
[30] Univ Vermont, Childrens Hosp, Burlington, VT USA
[31] Univ Mississippi, Med Ctr, Jackson, MS 39216 USA
[32] Harvard Med Sch, Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA 02115 USA
关键词
D O I
10.1002/ajh.25926
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E281 / E285
页数:5
相关论文
共 8 条
[1]   The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency [J].
Al-Samkari, Hanny ;
Addonizio, Kathryn ;
Glader, Bertil ;
Morton, D. Holmes ;
Chonat, Satheesh ;
Thompson, Alexis A. ;
Kuo, Kevin H. M. ;
Ravindranath, Yaddanapudi ;
Wang, Heng ;
Rothman, Jennifer A. ;
Kwiatkowski, Janet L. ;
Kung, Charles ;
Kosinski, Penelope A. ;
Al-Sayegh, Hasan ;
London, Wendy B. ;
Grace, Rachael F. .
BRITISH JOURNAL OF HAEMATOLOGY, 2021, 192 (06) :1092-1096
[2]   The variable manifestations of disease in pyruvate kinase deficiency and their management [J].
Al-Samkari, Hanny ;
Beers, Eduard J. van ;
Kuo, Kevin H. M. ;
Barcellini, Wilma ;
Bianchi, Paola ;
Glenthoj, Andreas ;
Pereira, Maria del Mar Manu ;
Wijk, Richard van ;
Glader, Bertil ;
Grace, Rachael F. .
HAEMATOLOGICA, 2020, 105 (09) :2229-2239
[3]   Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study [J].
Grace, Rachael F. ;
Bianchi, Paola ;
van Beers, Eduard J. ;
Eber, Stefan W. ;
Glader, Bertil ;
Yaish, Hassan M. ;
Despotovic, Jenny M. ;
Rothman, Jennifer A. ;
Sharma, Mukta ;
McNaull, Melissa M. ;
Fermo, Elisa ;
Lezon-Geyda, Kimberly ;
Morton, D. Holmes ;
Neufeld, Ellis J. ;
Chonat, Satheesh ;
Kollmar, Nina ;
Knoll, Christine M. ;
Kuo, Kevin ;
Kwiatkowski, Janet L. ;
Pospisilova, Dagmar ;
Pastore, Yves D. ;
Thompson, Alexis A. ;
Newburger, Peter E. ;
Ravindranath, Yaddanapudi ;
Wang, Winfred C. ;
Wlodarski, Marcin W. ;
Wang, Heng ;
Holzhauer, Susanne ;
Breakey, Vicky R. ;
Kunz, Joachim ;
Sheth, Sujit ;
Rose, Melissa J. ;
Bradeen, Heather A. ;
Neu, Nolan ;
Guo, Dongjing ;
Al-Sayegh, Hasan ;
London, Wendy B. ;
Gallagher, Patrick G. ;
Zanella, Alberto ;
Barcellini, Wilma .
BLOOD, 2018, 131 (20) :2183-2192
[4]   RED CELL PYRUVATE KINASE DEFICIENCY - EFFECT OF SPLENECTOMY [J].
NECHELES, TF ;
FINKEL, HE ;
SHEEHAN, RG ;
ALLEN, DM .
ARCHIVES OF INTERNAL MEDICINE, 1966, 118 (01) :75-&
[5]  
Oski F A, 1971, Ann Clin Lab Sci, V1, P177
[6]   Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations [J].
Pissard, S ;
Max-Audit, I ;
Skopinski, L ;
Vasson, A ;
Vivien, P ;
Bimet, C ;
Goossens, M ;
Galacteros, F ;
Wajcman, H .
BRITISH JOURNAL OF HAEMATOLOGY, 2006, 133 (06) :683-689
[7]   Non-transfusion-dependent thalassemia and thalassemia intermedia: epidemiology, complications, and management [J].
Vichinsky, Elliott .
CURRENT MEDICAL RESEARCH AND OPINION, 2016, 32 (01) :191-204
[8]   Molecular and clinical heterogeneity in pyruvate kinase deficiency in India [J].
Warang, Prashant ;
Kedar, Prabhakar ;
Ghosh, Kanjaksha ;
Colah, Roshan .
BLOOD CELLS MOLECULES AND DISEASES, 2013, 51 (03) :133-137