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The Journal of the Association of... Jan 2020
Observational Study
Topics: Humans; Polycythemia; Polycythemia Vera
PubMed: 31979931
DOI: No ID Found -
Seminars in Thrombosis and Hemostasis Oct 2003Research from the past 15 to 20 years has led to a comprehensive understanding of the etiology and effects of polycythemia and hyperviscosity in the newborn.... (Review)
Review
Research from the past 15 to 20 years has led to a comprehensive understanding of the etiology and effects of polycythemia and hyperviscosity in the newborn. Polycythemia and hyperviscosity are generally a result of a poor intrauterine environment or hypoxic complications during labor and delivery. Changes in blood viscosity are a direct result of changes in hematocrit because the plasma viscosity in the newborn is virtually always normal. Polycythemia and hyperviscosity are associated with decreases in blood flow to the brain, heart, lung, intestines, and carcass. Renal blood flow is not affected, but renal plasma flow is diminished, resulting in a lower glomerular filtration rate (GFR). The elevated hemoglobin and hematocrit are associated with an increase in the arterial oxygen content. It is the increase in arterial oxygen content, not the hyperviscosity, that is directly responsible for the decreased blood flow in the brain and heart as well as cardiac output. As a result, brain and cardiac oxygenation is normal. Decreased pulmonary blood flow appears to be the result of hyperviscosity and can result in system hypoxia. This can be corrected by a partial exchange transfusion to lower the hematocrit and viscosity. This will also improve renal function by increasing plasma flow. Because the abnormalities in brain function are due to a primary hypoxia event and not reduced cerebral blood flow, a partial exchange transfusion will not improve short-term or long-term abnormalities in neurological functioning.
Topics: Blood Viscosity; Hematocrit; Hemodynamics; Humans; Hypoxia; Infant, Newborn; Polycythemia; Syndrome
PubMed: 14631551
DOI: 10.1055/s-2003-44558 -
Current Opinion in Pediatrics Feb 2000Absolute polycythemia is a condition with increased red blood cell mass. There are a number of primary and secondary polycythemic disorders leading to absolute... (Review)
Review
Absolute polycythemia is a condition with increased red blood cell mass. There are a number of primary and secondary polycythemic disorders leading to absolute polycythemia. Primary polycythemias are caused by a defect intrinsic to the erythroid progenitor cells. The best characterized primary polycythemia is the autosomal dominant primary familial and congenital polycythemia (PFCP). Familial or childhood occurrence of the myeloproliferative disorder polycythemia vera are also discussed, emphasizing the importance of distinction between polycythemia vera and PFCP. Congenital or familial secondary polycythemic conditions are characterized by increased red cell mass, which is caused by circulating serum factors, typically erythropoietin.
Topics: 2,3-Diphosphoglycerate; Adult; Bisphosphoglycerate Mutase; Child; Erythropoietin; Hemoglobins, Abnormal; Humans; Methemoglobinemia; Polycythemia
PubMed: 10676771
DOI: 10.1097/00008480-200002000-00006 -
Pediatric Clinics of North America Aug 2004One percent to 5% of all newborns in the United States are polycythemic.As the venous hematocrit rises above 65%, the thickness or viscosity of whole blood also... (Review)
Review
One percent to 5% of all newborns in the United States are polycythemic.As the venous hematocrit rises above 65%, the thickness or viscosity of whole blood also increases, potentially compromising blood flow to a variety of organs. Fortunately, relatively few infants who have neonatal polycythemia or hyperviscosity develop complications attributable to their thick blood; however, controversy and the need for continued research envelop the issue of which infants are at risk and need to be treated. This article reviews the differential diagnosis, clinical presentation, and treatment of neonatal polycythemia.
Topics: Algorithms; Blood Viscosity; Diagnosis, Differential; Female; Humans; Infant, Newborn; Plasma Exchange; Polycythemia; Pregnancy; Pregnancy Complications; Risk Factors; Terminology as Topic; Treatment Outcome; United States
PubMed: 15275989
DOI: 10.1016/j.pcl.2004.03.012 -
Current Opinion in Hematology Mar 1999This overview concentrates on familial and congenital polycythemias in the context of other polycythemic disorders, with emphasis on those with established molecular... (Review)
Review
This overview concentrates on familial and congenital polycythemias in the context of other polycythemic disorders, with emphasis on those with established molecular lesions. Recent advances in the regulation of erythropoiesis, as they may relate to polycythemic states, are discussed as a background for those well-defined polycythemic states wherein the molecular defect has not yet been elucidated. Primary familial congenital polycythemias and congenital and familial secondary polycythemias, including hemoglobin mutants, methemoglobinemias and congenital 2,3-bisphosphoglycerate deficiency, are discussed. The most common primary polycythemia, polycythemia vera, as well as the only likely endemic congenital secondary polycythemia, known as Chuvash polycythemia, are discussed.
Topics: Animals; Biosensing Techniques; Erythropoiesis; Erythropoietin; Humans; Insulin-Like Growth Factor I; Oxygen; Polycythemia; Receptors, Angiotensin; Receptors, Erythropoietin
PubMed: 10088640
DOI: 10.1097/00062752-199903000-00008 -
Genes Sep 2022Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor... (Review)
Review
Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor () gene. To date, 33 genetic variants have been reported to be associated. We analyzed the presence of variants in two patients with polycythemia in whom pathogenic variants had been previously discarded. Molecular analysis of the gene was performed by Sanger sequencing of the coding regions and exon/intron boundaries of exon 8. We performed in vitro culture of erythroid progenitor cells. Segregation studies were done whenever possible. The two patients studied showed hypersensitivity to EPO in in vitro cultures. Analysis of the gene unveiled two novel pathogenic variants. Genetic testing of asymptomatic relatives could guarantee surveillance and proper management.
Topics: Humans; Receptors, Erythropoietin; Polycythemia
PubMed: 36292571
DOI: 10.3390/genes13101686 -
Indian Journal of Pediatrics 1990
Review
Topics: Blood Viscosity; Hematocrit; Humans; Infant, Newborn; Polycythemia
PubMed: 2094665
DOI: 10.1007/BF02728700 -
Science (New York, N.Y.) Jun 1995
Topics: Animals; Cardiovascular Diseases; Doping in Sports; Humans; Mice; Mice, Transgenic; Polycythemia; Receptors, Erythropoietin; Sports
PubMed: 7604250
DOI: 10.1126/science.7604250 -
Pediatrics and Neonatology Nov 2022Unlike in adults, there is no consensus on management and diagnosis of polycythemia in children. This study aims to evaluate the diagnosis and verify the algorithm in...
BACKGROUND
Unlike in adults, there is no consensus on management and diagnosis of polycythemia in children. This study aims to evaluate the diagnosis and verify the algorithm in children with polycythemia.
METHODS
Seventy-nine children with polycythemia were followed-up in our pediatric hematology-oncology clinic between December 15, 2019, and July 15, 2021. After eliminating secondary causes (hypoxia, pulmonary, cardiac diseases), we checked for genetic mutations, including congenital erythrocytosis gene panel (JAK, EPOR, EPAS1, EGNL1, HBB, HBA, BPGM, and VHL). We also compared parameters for secondary and idiopathic polycythemia groups.
RESULTS
Of the 79 children, thirty-five had secondary polycythemia (hypoxia, pulmonary, cardiac diseases), and one was diagnosed with a novel likely pathogenic mutation c.2089C > G; p.Pro697Ala in exon 13 of EPAS1 gene. Others (n = 35) had persistent and idiopathic polycythemia. Here, we compared the idiopathic and secondary cases. We found that the ratio of family history of polycythemia (n = 4 (9.5%) vs 0%, respectively) was higher in the second group (p = 0.009). In addition, the mean age (14.7 ± 3.52 vs 13.4 ± 4.67 respectively) (p = 0.042) and the ratio of erythroid hyperplasia in bone marrow [n = 3 (8.6%) vs 0% respectively] (p = 0.003) was higher in the idiopathic polycythemia group, compared to secondary polycythemia patients.
CONCLUSION
Finding the genetic defect in polycythemia is a significant issue. Due to being a rarity in children, the first line JAK mutation analysis should be performed in selected cases. This study is the first description of a Turkish patient with EPAS1 p.Pro697Ala mutation, thereby expanding our knowledge about the clinical features of the disease. However, new investigations are required to confirm its function.
Topics: Child; Humans; Heart Diseases; Hypoxia; Mutation; Polycythemia; Adolescent; Basic Helix-Loop-Helix Transcription Factors
PubMed: 36002380
DOI: 10.1016/j.pedneo.2022.06.006 -
Wiadomosci Lekarskie (Warsaw, Poland :... Feb 1993On the basis of own material, the authors discuss the epidemiology, clinical picture, and results of treatment of newborns with polycythaemia. An analysis shows that the...
On the basis of own material, the authors discuss the epidemiology, clinical picture, and results of treatment of newborns with polycythaemia. An analysis shows that the blood hyperviscosity syndrome is an underestimated cause of many pathological signs in newborns.
Topics: Blood Viscosity; Humans; Infant, Newborn; Polycythemia; Treatment Outcome
PubMed: 8266688
DOI: No ID Found