Sobrecarga de ferro em adolescente com xerocitose: a importância da ressonância nuclear magnética

Assis, Reijane Alves de; Kassab, Carolina; Seguro, Fernanda Salles; Costa, Fernando Ferreira; Silveira, Paulo Augusto Achucarro; Wood, John C.; Hamerschlak, Nelson

doi:10.1590/s1679-45082013000400022

Cited by 13 publications

(11 citation statements)

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“…Proband's liver biopsy indicated hepatosiderosis, and she later presented with cardiac failure secondary to parenchymal iron deposition responsive to chelation therapy. 4…”

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confidence: 99%

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M

et al. 2018

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“…Proband's liver biopsy indicated hepatosiderosis, and she later presented with cardiac failure secondary to parenchymal iron deposition responsive to chelation therapy. 4…”

mentioning

confidence: 99%

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M

et al. 2018

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“…Only a minority of DHS patients require regular transfusions and despite this hyperferritinemia, high transferrin saturation or clinical iron overload is very frequent in DHSt 3,7,21,22,29,39,44,54–57. In the previously mentioned kindred with 29 patients, only 5 (17%) had ever received a blood transfusion and yet all had elevated ferritin levels, in 7 (24%) patients even exceeding 900 µg/L 3.…”

Section: Resultsmentioning

confidence: 94%

“…A 19-year-old woman, who had been sporadically transfused since childhood, developed heart failure, and a biopsy verified liver fibrosis several years prior to the DHSt diagnosis 54. A MRI T2* scan revealed iron overload in heart, liver, and also pancreas, after which she started iron chelating treatment, normalizing iron deposits and organ function54 Clinical cardiac iron overload was also suspected in a 25-year-old DHSt patient who had been irregularly transfused. She suddenly died, and autopsy revealed elevated myocardial iron 21.…”

Section: Resultsmentioning

confidence: 97%

“…Liver or pancreas involvement with diabetes has also been found in patients aged 22–55 years – in most patients, several years prior to the DHSt diagnosis 9,39,57. Iron chelation therapy has been applied in some patients;21,39,54 however, due to the well-compensated hemolysis, also therapeutic phlebotomies have been found to be feasible in others 9,22,56,57…”

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confidence: 99%

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<p>Dehydrated hereditary stomatocytosis: clinical perspectives</p>

Frederiksen¹

2019

JBM

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Dehydrated hereditary stomatocytosis (DHSt) is a nonimmune congenital hemolytic disorder characterized by red blood cell (RBC) dehydration and lysis. It has been a recognized diagnostic entity for almost 50 years, and autosomal dominant inheritance has long been suspected, but it was not until 2011 that the first genetic alterations were identified. The current study reviews 73 articles published during 1971–2019 and focuses on clinical perspectives of the disease. All but one of the published clinical data in DHSt were either single case reports or case series. From these, it can be seen that patients with DHSt often have fully or partially compensated hemolysis with few symptoms. Despite this, iron overload is an almost universal finding even in patients without or with only sporadic blood transfusions, and this may lead to organ dysfunction. Other severe complications, such as thrombosis and perinatal fluid effusions unrelated to fetal hemoglobin concentration, may also occur. No specific treatment for symptomatic hemolysis exists, and splenectomy should be avoided as it seems to aggravate the risk of thrombosis. Recently, treatment with senicapoc has shown activity against RBC dehydration in vitro; however, it is not known if this translates into relevant clinical effects. In conclusion, despite recent advances in the understanding of pathophysiology in DHSt, options for clinical management have not improved. Entering data into international registries has the potential to fill gaps in knowledge and eventually care of these rare patients.

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“…Iron overload, independent of transfusion, is frequent in HX and can lead to severe hepatic and cardiac damage 28,50,82,83 . Ferritinemia levels strongly correlate with age in HX patients.…”

Section: Piezo1‐hx and Iron Overloadmentioning

confidence: 99%

Recent advances in the pathophysiology of PIEZO1‐related hereditary xerocytosis

et al. 2021

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Hereditary xerocytosis is a rare red blood cell disease related to gain-of-function mutations in the FAM38A gene, encoding PIEZO1, in 90% of cases; PIEZO1 is a broadly expressed mechano-transducer that plays a major role in many cell systems and tissues that respond to mechanical stress. In erythrocytes, PIEZO1 adapts the intracellular ionic content and cell hydration status to the mechanical constraints induced by the environment. Until recently, the pathophysiology of hereditary xerocytosis was mainly believed to be based on the "PIEZO1-Gardos channel axis" in erythrocytes, according to which PIEZO1-activating mutations induce a calcium influx that secondarily activates the Gardos channel, leading to potassium and water efflux and subsequently to red blood cell dehydration. However, recent studies have demonstrated additional roles for PIEZO1 during early erythropoiesis and reticulocyte maturation, as well as roles in other tissues and cells such as lymphatic vessels, hepatocytes, macrophages and platelets that may affect the pathophysiology of the disease. These findings, presented and discussed in this review, broaden our understanding of hereditary xerocytosis beyond that of primarily being a red blood cell disease and identify potential therapeutic targets. | INTRODUCTIONThe PIEZO proteins are a family of mechano-transducers first described in a neuron derived cell line in 2010. 1 The two members are PIEZO1, encoded by FAM38A on chromosome 16, and PIEZO2, encoded by FAM38B on chromosome 18. They are expressed in many tissues. 1,2 The structure of PIEZO1 has been recently elucidated. A first description of the murine protein revealed its three-dimensional structure, consisting of a three-bladed homotrimeric transmembrane helix completed by an extracellular cap. An intra-cytoplasmic domain, split into three parts, called "beams," extends from the transmembrane domain. The C-terminal end of each monomer has an extracellular domain (ECD), which forms the cap, and an intracellular domain (CTD), which appears to be connected to the paddles by the beams and closes the inner ion pore (Figure 1). The assembly provides a hydrophilic central transmembrane duct bordered by six helices that allows the passage of ions. Thus PIEZO1 constitutes a mechanosensitive ion channel due to the flexibility of the three blades. 1 Deformation of the plasma membrane subsequent to mechanical stimulation induces rotation of the PIEZO1 blades, transmitting such deformation to the ECD and CTD domains, allowing the ion channel to open using a lever-like mechanism. 2 When a compressive force is applied parallel to the axis of the ion channel, it induces lateral membrane tension, resulting in flattening and widening of PIEZO1, which causes the pore to open and allows the passage of ions. Such deformations are reversible, and PIEZO1 returns rapidly to its original conformation. [3][4][5] After opening, PIEZO1 acts as a passive channel for mono/divalent cations depending on their extracellular-intracellular Nicolas Jankovsky and Alexis Caulier...

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Sobrecarga de ferro em adolescente com xerocitose: a importância da ressonância nuclear magnética

Cited by 13 publications

References 11 publications

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M

<p>Dehydrated hereditary stomatocytosis: clinical perspectives</p>

Recent advances in the pathophysiology of PIEZO1‐related hereditary xerocytosis

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