Characterization of the severe phenotype of pyruvate kinase deficiency

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F20%3AN0000198" target="_blank" >RIV/00098892:_____/20:N0000198 - isvavai.cz</a>

Výsledek na webu

<a href="https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajh.25926" target="_blank" >https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajh.25926</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ajh.25926" target="_blank" >10.1002/ajh.25926</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Characterization of the severe phenotype of pyruvate kinase deficiency

Popis výsledku v původním jazyce

Pyruvate kinase (PK) deficiency is the most common cause of hereditary non-spherocytic hemolytic anemia and is characterized by considerable genotypic heterogeneity, with over 350 documented pathogenic mutations in the PKLR gene.1,2 Clinical manifestations range from a mild, asymptomatic well-compensated anemia to a severe transfusion-dependent hemolytic anemia from birth.3,4 Other complications of PK deficiency include iron overload, pulmonary hypertension, endocrinopathies, liver failure, biliary disease, and extramedullary hematopoiesis, among others.3,4 Splenectomy, a common supportive treatment, may partially ameliorate the anemia and reduce transfusion requirements.5 Hemoglobin concentrations correlate poorly with symptoms in PK deficiency6; therefore, transfusion requirements are typically used to classify disease severity, with those who are regularly transfused (often labeled “transfusion-dependent”) despite splenectomy assumed to be the most severely-affected subgroup. Our understanding of the clinical characteristics of this most severe subgroup is quite limited. Therefore, in this study, we aimed to describe the differences in clinical characteristics and disease complications between regularly transfused splenectomized patients with PK deficiency, and those who were also splenectomized but did not require regular transfusions. As is observed in other hereditary hemolytic anemias, we hypothesized that patients with pyruvate kinase deficiency requiring regular transfusions would have higher rates of disease complications.

Název v anglickém jazyce

Characterization of the severe phenotype of pyruvate kinase deficiency

Popis výsledku anglicky

Pyruvate kinase (PK) deficiency is the most common cause of hereditary non-spherocytic hemolytic anemia and is characterized by considerable genotypic heterogeneity, with over 350 documented pathogenic mutations in the PKLR gene.1,2 Clinical manifestations range from a mild, asymptomatic well-compensated anemia to a severe transfusion-dependent hemolytic anemia from birth.3,4 Other complications of PK deficiency include iron overload, pulmonary hypertension, endocrinopathies, liver failure, biliary disease, and extramedullary hematopoiesis, among others.3,4 Splenectomy, a common supportive treatment, may partially ameliorate the anemia and reduce transfusion requirements.5 Hemoglobin concentrations correlate poorly with symptoms in PK deficiency6; therefore, transfusion requirements are typically used to classify disease severity, with those who are regularly transfused (often labeled “transfusion-dependent”) despite splenectomy assumed to be the most severely-affected subgroup. Our understanding of the clinical characteristics of this most severe subgroup is quite limited. Therefore, in this study, we aimed to describe the differences in clinical characteristics and disease complications between regularly transfused splenectomized patients with PK deficiency, and those who were also splenectomized but did not require regular transfusions. As is observed in other hereditary hemolytic anemias, we hypothesized that patients with pyruvate kinase deficiency requiring regular transfusions would have higher rates of disease complications.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

American Journal of Hematology

ISSN

0361-8609

e-ISSN

1096-8652

Svazek periodika

95

Číslo periodika v rámci svazku

10

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

„E281“- „E285“

Kód UT WoS článku

000556023800001

EID výsledku v databázi Scopus

2-s2.0-85089029869