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Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16.

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

Author information

1
Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, MA.
2
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
3
Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands.
4
Schwerpunktpraxis für Pädiatrische Hämatologie-Onkologie, Munich, Germany.
5
Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA.
6
Primary Children's Hospital, University of Utah, Salt Lake City, UT.
7
Texas Children's Hematology Center, Baylor College of Medicine, Houston, TX.
8
Duke University Medical Center, Durham, NC.
9
Children's Mercy Hospital, Kansas City, MO.
10
University of Mississippi Medical Center, Jackson, MS.
11
Yale University School of Medicine, New Haven, CT.
12
Central Pennsylvania Clinic for Special Children and Adults, Belleville, PA.
13
Lancaster General Hospital, Lancaster, PA.
14
St. Jude Children's Research Hospital, Memphis, TN.
15
Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA.
16
Klinikum Kassel GmbH, Kassel, Germany.
17
Phoenix Children's Hospital, Phoenix, AZ.
18
University of Toronto, University Health Network, Toronto, ON, Canada.
19
Children's Hospital of Pennsylvania and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA.
20
Fakultni Nemocnice Olomouc, Olomouc, Czech Republic.
21
Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada.
22
Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
23
University of Massachusetts Memorial Children's Medical Center, Worcester, MA.
24
Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI.
25
Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
26
DDC Clinic for Special Needs Children, Middlefield, OH.
27
Charite, Berlin, Germany.
28
McMaster University, Hamilton, ON, Canada.
29
Zentrum für Kunder-und Jugendmedizin, Heidelberg, Germany.
30
Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY.
31
Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH; and.
32
The University of Vermont Children's Hospital, Burlington, VT.

Abstract

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.

Comment in

PMID:
29549173
DOI:
10.1182/blood-2017-10-810796
[Indexed for MEDLINE]

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