Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

Ferreira, P.; Morais, Lurdes; Costa, Ricardo J. S.; Resende, Carlos; Dias, Clara Paz; Araújo, Filomena; Costa, Elı́sio; Barbot, José; Vilarinho, António

doi:10.1007/s004310051314

Cited by 49 publications

(30 citation statements)

References 2 publications

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“…Some PK-deficient patients present with hydrops fetalis. 89 Reticulocytosis is almost always observed. Splenectomy often ameliorates the hemolysis, especially in severe cases, and increases reticulocyte counts even further.…”

Section: Pyruvate Kinasementioning

confidence: 99%

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

Wijk

Solinge

2005

Blood

284

227

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The red blood cell depends solely on the anaerobic conversion of glucose by the Embden-Meyerhof pathway for the generation and storage of high-energy phosphates, which is necessary for the maintenance of a number of vital functions. Many red blood cell enzymopathies have been described that disturb the erythrocyte's integrity, shorten its cellular survival, and result in hemolytic anemia. By far the majority of these enzymopathies are hereditary in nature. In this review, we summarize the current knowledge regarding the genetic, biochemical, and struc- IntroductionThe moment the mature red blood cell leaves the bone marrow, it is optimally adapted to perform the binding and transport of oxygen and its delivery to all tissues. This is the most important task of the erythrocyte during its estimated 120-day journey in the bloodstream. The membrane, hemoglobin, and proteins involved in metabolic pathways of the red blood cell interact to modulate oxygen transport, protect hemoglobin from oxidant-induced damage, and maintain the osmotic environment of the cell. The biconcave shape of the red blood cell provides an optimal area for respiratory exchange. The latter requires passage through microcapillaries, which is achieved by a drastic modification of its biconcave shape, made possible only by the loss of the nucleus and cytoplasmic organelles and, consequently, the ability to synthesize proteins. 1 During their intravascular lifespan, erythrocytes require energy to maintain a number of vital cell functions. These include (1) maintenance of glycolysis; (2) maintenance of the electrolyte gradient between plasma and red cell cytoplasm through the activity of adenosine triphosphate (ATP)-driven membrane pumps; (3) synthesis of glutathione and other metabolites; (4) purine and pyrimidine metabolism; (5) maintenance of hemoglobin's iron in its functional, reduced, ferrous state; (6) protection of metabolic enzymes, hemoglobin, and membrane proteins from oxidative denaturation; and (7) preservation of membrane phospholipid asymmetry. Because of the lack of nuclei and mitochondria, mature red blood cells are incapable of generating energy via the (oxidative) Krebs cycle. Instead, erythrocytes depend on the anaerobic conversion of glucose by the Embden-Meyerhof pathway for the generation and storage of high-energy phosphates (Figure 1). Moreover, erythrocytes possess a unique glycolytic bypass for the production of 2,3-bisphosphoglycerate (2,3-DPG), the RapoportLuebering shunt. This shunt bypasses the phosphoglycerate kinase (PGK) step and accounts for the synthesis and regulation of 2,3-DPG levels that decrease hemoglobin's affinity for oxygen. 2 In addition, 2,3-DPG constitutes an energy buffer.A number of red blood cell enzymopathies have been described in the Embden-Meyerhof pathway. [3][4][5][6] The lack of characteristic changes in red blood cell morphology differentiates the glycolytic enzymopathies from erythrocyte membrane defects and most hemoglobinopathies. In general, red blood cell enzymopathies cause chronic n...

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Section: Pyruvate Kinasementioning

confidence: 99%

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

Wijk

Solinge

2005

Blood

284

227

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“…11 Nonimmune hydrops fetalis may be associated with all other congenital hemolytic anemias. [14][15] The diagnosis of HLH was made according to the guidelines of the Histiocyte Society Criteria 8 with pancytopenia, splenomegaly, hypofibrinogenemia, prominent hemophagocytosis and increased We did not detect an underlying disease causing secondary HLH. Parental consanguinity was also suggestive for primary HLH.…”

Section: Discussionmentioning

confidence: 99%

Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis

et al. 2007

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Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with hereditary spherocytosis and hemophagocytic hystiocytosis. We think that babies with hydrops fetalis born of consanguineous parents should be examined for hereditary diseases, and that these rare causes should be taken into account in problematic cases.

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“…2 Prenatal deaths have been reported in subjects severely deficient in glucosephosphate isomerase, 21,22 PK, [23][24][25] and hexokinase. 26 With the use of molecular biology techniques, prenatal genetic testing for RBC enzyme deficiencies has become possible, facilitating the management of severe prenatal hemolytic anemia.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] Although subjects with PK deficiency show a moderate degree of hemolytic anemia, the most severe cases die in utero 4,5 or are transfusion-dependent. 6 Repeated red blood cell (RBC) transfusions may induce hemochromatosis, 7 and a recent report showed that free hemoglobin caused by intravascular hemolysis might interfere with the biological action of nitric oxide, leading to the development of pulmonary hypertension.…”

mentioning

confidence: 99%

Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency

Kanno¹,

Utsugisawa²,

Aizawa³

et al. 2007

Haematologica

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Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

Cited by 49 publications

References 2 publications

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis

Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis

Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency

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