Clinical and biological features in PIEZO1 -hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients
2019; Ferrata Storti Foundation; Volume: 104; Issue: 8 Linguagem: Inglês
10.3324/haematol.2018.205328
ISSN1592-8721
AutoresVéronique Picard, Corinne Guitton, Isabelle Thuret, Christian Rosé, Laurence Bendélac, Khaldoun Ghazal, Patricia Aguilar‐Martinez, Catherine Badens, Claire Barro, Claire Bénéteau, Claire Berger, P. Cathébras, Éric Deconinck, Jacques Delaunay, J.M. Durand, Nadia Firah, Frédéric Galactéros, Bertrand Godeau, Xavier Jaïs, Jean-Pierre de Jaureguiberry, Camille Le Stradic, François Lifermann, Robert Maffre, G Morin, Julien Perrin, Valérie Proulle, M. Ruivard, Fabienne Toutain, Agnès Lahary, Loïc Garçon,
Tópico(s)Hemoglobinopathies and Related Disorders
ResumoW e describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis.Twelve patients from six families carried a KCNN4 mutation, five had the recurrent p.Arg352His mutation and one had a new deletion at the exon 7-intron 7 junction.Forty-nine families carried a PIEZO1 mutation, which was a known recurrent mutation in only one-third of the cases and private sequence variation in others; 12 new probably pathogenic missense mutations were identified.The two dominant features leading to diagnosis were hemolysis that persisted after splenectomy and hyperferritinemia, with an inconstant correlation with liver iron content assessed by magnetic resonance imaging.PIEZO1-hereditary xerocytosis was characterized by compensated hemolysis in most cases, perinatal edema of heterogeneous severity in more than 20% of families and a major risk of post-splenectomy thrombotic events, including a high frequency of portal thrombosis.In KCNN4-related disease, the main symptoms were more severe anemia, hemolysis and iron overload, with no clear sign of red cell dehydration; therefore, this disorder would be better described as a 'Gardos channelopathy'.These data on the largest series to date indicate that PIEZO1-hereditary xerocytosis and Gardos channelopathy are not the same disease although they share hemolysis, a high rate of Clinical and biological features in PIEZO1hereditary xerocytosis and Gardos
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