Pyruvate kinase deficiency in pregnancy complicated by iron overload

Dolan, Lucia; Ryan, Max J.; Moohan, James

doi:10.1111/j.1471-0528.2002.01083.x

Cited by 14 publications

(3 citation statements)

References 10 publications

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“…The degree of anaemia is relatively constant in adulthood, although occasional exacerbation may occur during acute infections and pregnancy. Pregnancy is usually well tolerated in PK deficiency and associated with favourable perinatal outcome (Fanning & Hinkle, 1985; Esen & Olajide, 1998; Dolan et al , 2002); haemolysis can increase, requiring blood transfusions, before and after delivery (Amankwah et al , 1980; Dolan et al , 2002). It is worth noting that anaemia may be surprisingly well tolerated in PK‐deficient patients (Oski et al , 1971) because of the increased red cell 2,3‐DPG content, which is responsible for a rightward shift in the oxygen dissociation curve of haemoglobin.…”

Section: Clinical Haematological and Diagnostic Aspects Of Pk Deficimentioning

confidence: 99%

Red cell pyruvate kinase deficiency: molecular and clinical aspects

et al. 2005

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SummaryRed cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic haemolytic anaemia. The degree of haemolysis varies widely, ranging from very mild or fully compensated forms, to life-threatening neonatal anaemia and jaundice necessitating exchange transfusions. Erythrocyte PK is synthesized under the control of the PK-LR gene located on chromosome 1. To date, more than 150 different mutations in the PK-LR gene have been associated with PK deficiency. First attempts to delineate the biochemical and clinical consequences of the molecular defect were mainly based on the observation of the few homozygous patients and on the analysis of the three-dimensional structure of the enzyme. More recently, the comparison of the recombinant mutants of human red cell PK with the wild-type enzyme has enabled the effects of amino acid replacements on the enzyme molecular properties to be determined and help to correlate genotype to clinical phenotype.

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Section: Clinical Haematological and Diagnostic Aspects Of Pk Deficimentioning

confidence: 99%

Red cell pyruvate kinase deficiency: molecular and clinical aspects

et al. 2005

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“…The enzymatic deficiency leads to a red cell susceptibility to hypoxic and conformational stress in the spleen and Depending on the history of splenectomy, transfusion, and iron overload, echocardiography is indicated as it assesses myocardial hypertrophy secondary to increased cardiac output compensating for chronic anemia (8). In our case, the estimated EF was normal.…”

Section: Discussionmentioning

confidence: 75%

Pyruvate Kinase Deficiency along with Detection of Plasminogen Activator Inhibitor (PAI-1) 4G/4G Homozygous Genotype in Pregnancy

Theodoridou¹,

Vyzantiadis²,

Zepeiridis³

et al. 2015

GYNE

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“…47,48 Coinheritance of hereditary hemochromatosis mutations has also been described in iron-overloaded, PK-deficient patients. [49][50][51][52][53] Inappropriately low levels of hepcidin were detected in PK-deficient patients with increased ferritin and no mutations in genes associated with hereditary hemochromatosis, thereby confirming the predominant effect of accelerated erythropoiesis on hepcidin production. 48 Gallstones are detected with increased frequency after the first decade of life and may occur even after splenectomy.…”

Section: Clinical Aspectsmentioning

confidence: 69%

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

et al. 2018

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Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD.

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Pyruvate kinase deficiency in pregnancy complicated by iron overload

Cited by 14 publications

References 10 publications

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Red cell pyruvate kinase deficiency: molecular and clinical aspects

Pyruvate Kinase Deficiency along with Detection of Plasminogen Activator Inhibitor (PAI-1) 4G/4G Homozygous Genotype in Pregnancy

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

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