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JPMA. the Journal of the Pakistan... Oct 2022Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 gene,...
Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 gene, which encodes the manganese (Mn) transporter in the body; as a result, Mn accumulates in the brain, liver and muscles. This accumulation leads to symptoms of generalized dystonia, polycythemia, and hypermanganesaemia. In this report, we present the case of a 2½-year-old baby girl (patient) with complaints of lower limb weakness and increased difficulty in walking for six months. Her laboratory test results showed deranged values with increased Mn levels in the body. The patient was put on six cycles of EDTA therapy, which showed an improvement in her condition. This case report is presented to create awareness about a rare genetic disorder with an effective treatment in some cases. Thus, more work and research is required to understand and develop better treatment options for this disease.
Topics: Humans; Female; Young Adult; Adult; Cation Transport Proteins; Dystonia; Metabolic Diseases; Polycythemia; Mutation; Manganese; Dystonic Disorders; Liver Cirrhosis
PubMed: 36661006
DOI: 10.47391/JPMA.1776 -
Innere Medizin (Heidelberg, Germany) May 2024The case of a male patient with newly diagnosed polycythemia vera showing rare and unusually rapid progression with phenotypic change towards chronic myelomonocytic...
The case of a male patient with newly diagnosed polycythemia vera showing rare and unusually rapid progression with phenotypic change towards chronic myelomonocytic leukemia is presented. The case report illustrates remarkably rapid disease progression including a structural change in usually indolent polycythemia vera and highlights the prognostic relevance of enhanced molecular genetic testing.
PubMed: 38777881
DOI: 10.1007/s00108-024-01714-2 -
Hematology (Amsterdam, Netherlands) Dec 2023Several observations have shown that patients with polycythemia have iron deficiency. Our objectives were to report the prevalence of iron deficiency and to evaluate the...
INTRODUCTION
Several observations have shown that patients with polycythemia have iron deficiency. Our objectives were to report the prevalence of iron deficiency and to evaluate the diagnostic performance of serum ferritin in polycythemia vera.
PATIENTS AND METHOD
This is a retrospective descriptive and analytical study carried out in the internal medicine department of the Henri Mondor Hospital, Aurillac, France. The study involved 114 patients with polycythemia, followed in the department from January 1, 2010 to December 31, 2021. To evaluate the diagnostic performance, the JAK2 mutation was considered as the gold standard of diagnosis.
RESULTS
Thirty-three patients had polycythemia vera and 76 patients had secondary polycythemia. The mean age of the patients was 61.79 years (±15.44) with a sex ratio of 4.43. The overall prevalence of iron deficiency was 21.05%. The prevalence was 53% in polycythemia vera group and 1.32% in secondary polycythemia group. The risk of iron deficiency was high in polycythemia vera (OR = 115; 95% CI [14.4-918.2], < 0.0001) and the sensitivity and specificity of serum ferritin were 52.63% and 100% respectively.
CONCLUSION
Assessment of iron deficiency should be part of the initial evaluation of polycythemia. Iron deficiency had a high specificity during polycythemia vera.
Topics: Humans; Middle Aged; Polycythemia; Polycythemia Vera; Retrospective Studies; Prevalence; Iron Deficiencies; Ferritins
PubMed: 37115586
DOI: 10.1080/16078454.2023.2204621 -
Blood Cancer Journal Nov 2023SRSF2 mutations are found in association with JAK2V617F in myeloproliferative neoplasms (MPN), most frequently in myelofibrosis (MF). However, the contribution of SRSF2...
SRSF2 mutations are found in association with JAK2V617F in myeloproliferative neoplasms (MPN), most frequently in myelofibrosis (MF). However, the contribution of SRSF2 mutation in JAK2V617F-driven MPN remains elusive. To investigate the consequences of SRSF2 and JAK2 mutations in MPN, we generated Cre-inducible Srsf2Jak2 knock-in mice. We show that co-expression of Srsf2 mutant reduced red blood cell, neutrophil, and platelet counts, attenuated splenomegaly but did not induce bone marrow fibrosis in Jak2 mice. Furthermore, co-expression of Srsf2 diminished the competitiveness of Jak2 mutant hematopoietic stem/progenitor cells. We found that Srsf2 mutant reduced the TGF-β levels but increased the expression of S100A8 and S100A9 in Jak2 mice. Furthermore, enforced expression of S100A9 in Jak2 mice bone marrow significantly reduced the red blood cell, hemoglobin, and hematocrit levels. Overall, these data suggest that concurrent expression of Srsf2 and Jak2 mutants reduces erythropoiesis but does not promote the development of bone marrow fibrosis in mice.
Topics: Animals; Mice; Janus Kinase 2; Mutation; Myeloproliferative Disorders; Neoplasms; Polycythemia; Primary Myelofibrosis; Serine-Arginine Splicing Factors
PubMed: 38012156
DOI: 10.1038/s41408-023-00947-y -
Best Practice & Research. Clinical... Nov 2022Monochorionic twins are at risk of transfusion imbalances as long as they are connected to the shared placenta during their intrauterine journey. This review article... (Review)
Review
Monochorionic twins are at risk of transfusion imbalances as long as they are connected to the shared placenta during their intrauterine journey. This review article addresses the macroscopic examination of the monochorionic placenta at the time of birth and explains placental dye injection studies to document the vascular anastomoses and placental sharing. We elaborate on the different types of anastomoses, the importance of how the placenta is divided between the twins, and the angioarchitecture in twin-twin transfusion syndrome, twin anemia polycythemia sequence and selective fetal growth restriction.
Topics: Female; Pregnancy; Humans; Placenta; Perinatology; Fetofetal Transfusion; Fetal Growth Retardation; Polycythemia
PubMed: 35430160
DOI: 10.1016/j.bpobgyn.2022.03.007 -
EBioMedicine Jan 2022Erythrocytosis is a hematological disorder usually related to hematopoietic stem cell somatic mutations. However, unexplained erythrocytosis remains frequent. In this...
BACKGROUND
Erythrocytosis is a hematological disorder usually related to hematopoietic stem cell somatic mutations. However, unexplained erythrocytosis remains frequent. In this study, we evaluated the involvement of IgA1, a regulator of erythropoiesis also implicated in IgA nephropathy (IgAN) pathophysiology, in unexplained polycythemia/erythrocytosis (PE) of IgAN patients.
METHODS
IgAN-PE patients' serum was collected, analyzed and used to study IgA1 effect on proliferation and differentiation of erythroid progenitors. Hematological parameters of transgenic mice for human alpha1 heavy chain were studied. Multicentric observational cohorts of chronic kidney disease (CKD) patients, including both native kidney diseases and renal transplants, were studied to analyze patient hemoglobin levels.
FINDINGS
We retrospectively identified 6 patients with IgAN and unexplained PE. In large CKD cohorts, IgAN was associated with PE in 3.5% of patients (p<0.001 compared to other nephropathies). IgAN was an independent factor associated with higher hemoglobin levels (13.1g/dL vs 12.2 g/dL, p=0.01). During post-transplant anemia, anemia recovery was faster in IgAN patients. Elevated polymeric/monomeric IgA1 ratio as well as high Gd-IgA1 rate were observed in circulating IgA1 of the 6 IgAN-PE patients as compared with control or IgAN patients without PE. IgA1 from these patients increased the sensitivity of erythroid progenitors to Epo. In mice, we also observed an elevation of hematocrit in alpha1 knock-in mice compared to wild type controls.
INTERPRETATION
These data identify a new etiology of erythrocytosis and demonstrate the role of pIgA1 in human erythropoiesis. This syndrome of IgA-related erythrocytosis should be investigated in case of unexplained erythrocytosis and renal disease.
FUNDING
This work was supported by INSERM (French national institute for health and medical research), Labex GRex and Imagine Institute (Paris, France).
Topics: Animals; Biomarkers; Galactose; Glomerulonephritis, IGA; Humans; Immunoglobulin A; Mice; Polycythemia; Retrospective Studies
PubMed: 34959131
DOI: 10.1016/j.ebiom.2021.103785 -
The Journal of the Association of... Sep 2021A 73-year-old hypertensive was found to have new-onset polycythemia during his routine health check up. A workup revealed no evidence of polycythemia rubra vera or a...
A 73-year-old hypertensive was found to have new-onset polycythemia during his routine health check up. A workup revealed no evidence of polycythemia rubra vera or a secondary cause of his polycythemia (his erythropoietin level was normal, he had no splenomegaly, and a test for JAK2 v617F mutation was negative). Over the next year of follow up, his hematological profile returned to normal levels. We conclude that this patient had Gaisbock's syndrome, a relative polycythemia that occurs when there is clinically evident contraction of the intravascular fluid space (plasma volume) in smokers and people who received diuretics.
Topics: Aged; Humans; Hypertension; Male; Polycythemia; Polycythemia Vera
PubMed: 34585896
DOI: No ID Found -
Clinical Obstetrics and Gynecology Dec 2023With an increasing incidence of twin gestations, understanding the inherent risks associated with these pregnancies is essential in modern obstetrics. The unique...
With an increasing incidence of twin gestations, understanding the inherent risks associated with these pregnancies is essential in modern obstetrics. The unique differences in placentation in monochorionic twins leads to unique complications, including twin-to-twin transfusion syndrome, the twin anemia-polycythemia sequence, and selective fetal growth restriction. Not only does the understanding of the monochorionic placenta lead to an understanding of the pathophysiology of the complications of monochorionic twins, but it also has led to the development of highly effective directed fetal therapy via fetoscopic laser coagulation used in twin-to-twin transfusion syndrome.
Topics: Pregnancy; Female; Humans; Fetofetal Transfusion; Fetal Growth Retardation; Polycythemia; Placenta; Placentation; Pregnancy, Twin; Twins, Monozygotic
PubMed: 37910135
DOI: 10.1097/GRF.0000000000000821 -
Expert Review of Hematology Jan 2023Monochorionic twins may develop fetal anemia when blood is unequally distributed via the placental vascular anastomoses. This review focuses on the causes of fetal... (Review)
Review
INTRODUCTION
Monochorionic twins may develop fetal anemia when blood is unequally distributed via the placental vascular anastomoses. This review focuses on the causes of fetal anemia in complicated monochorionic twins and highlights the differences in management and outcome.
AREAS COVERED
Fetal anemia can occur in the context of twin anemia polycythemia sequence (TAPS), chronic twin-twin transfusion syndrome (TTTS) and acute peripartum TTTS, and in cotwins after single fetal demise. Diagnosis of fetal anemia is based on abnormal Doppler ultrasound measurements. Management options include fetoscopic laser surgery, intrauterine blood transfusion, or expectant management, depending on the type of complication and the severity of the disease. In all complications, fetal anemia may lead to perinatal mortality, neonatal morbidity, severe cerebral injury, and long-term neurodevelopmental impairment. In TAPS specifically, anemic donors may also show bilateral deafness.
EXPERT OPINION
Knowledge on the diagnosis and optimal treatment in TTTS is nowadays widespread, but caregivers often fail to distinguish TAPS from acute peripartum TTTS at birth. A full blood count including reticulocyte count is required, and placental dye injection is extremely helpful to reach the correct diagnosis and establish the optimal management.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Placenta; Polycythemia; Twins; Fetofetal Transfusion; Anemia; Pregnancy, Twin
PubMed: 36609186
DOI: 10.1080/17474086.2023.2166921 -
Frontiers in Endocrinology 2022TEMPI (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) syndrome is... (Review)
Review
TEMPI (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) syndrome is a rare and newly defined multisystemic disease, which belongs to "monoclonal gammopathy of clinical significances". Due to its rarity, the etiology, pathogenesis, and clinical features of this disease remain largely unknown. Owing to its hidden and diverse clinical manifestations, missed diagnosis and misdiagnosis are common. In recent years, as more patients (including three fatal cases) were identified, some special clinical manifestations other than the typical pentad of TEMPI syndrome have been reported. Meanwhile, several studies attempting to identify the pathogenesis of TEMPI syndrome were conducted. In this review, we summarize the reported clinical characteristics of TEMPI syndrome and discuss the current and potential treatment options for patients with TEMPI syndrome, including those with relapsed/refractory disease. Furthermore, we provide an overview of current knowledge on the pathophysiology of TEMPI syndrome.
Topics: Humans; Monoclonal Gammopathy of Undetermined Significance; Paraproteinemias; Polycythemia; Syndrome; Telangiectasis
PubMed: 35663307
DOI: 10.3389/fendo.2022.886961