Epstein syndrome (Q96603): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Síndrome de Epstein é uma forma da "síndrome MYH9" (um grupo que inclui quatro formas clínicas com manifestações semelhantes resultantes de mutações no gene MYH9: anomalia de May-Hegglin, síndrome de Sebastian, síndrome de Fechtner e síndrome de Epstein), caracterizada geralmente por macrotrombocitopenia grave mas paradoxalmente resultando em poucos ou nenhum sintoma. A macrotrombocitopenia é definida como a presença de plaquetas gigantes, com diâmetro igual ou superior ao de uma hemácia. A síndrome de Epstein assemelha-se clinicamente à síndrome de Fechtner (envolvimento renal marcado por glomerulonefrite intersticial e surdez neurossensorial associada a trombopenia), mas pode ser distinguida pela ausência de catarata. | |||
| description / en | description / en | ||
Epstein syndrome is one form of the ``MYH9 syndrome'' (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome), characterised by usually severe macrothrombocytopenia but paradoxically resulting in few if any symptoms. Macrothrombocytopenia is defined as the presence of giant platelets, with a diameter equal to or greater than that of a red blood cell. Epstein syndrome clinically resembles Fechtner syndrome (renal involvement marked by interstitial glomerulonephritis and sensorineural deafness associated with thrombopenia), but it can be distinguished by the absence of cataract. | |||
Revision as of 12:37, 16 August 2026
Epstein syndrome is one form of the ``MYH9 syndrome'' (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome), characterised by usually severe macrothrombocytopenia but paradoxically resulting in few if any symptoms. Macrothrombocytopenia is defined as the presence of giant platelets, with a diameter equal to or greater than that of a red blood cell. Epstein syndrome clinically resembles Fechtner syndrome (renal involvement marked by interstitial glomerulonephritis and sensorineural deafness associated with thrombopenia), but it can be distinguished by the absence of cataract.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1379284603 |
||
| English | Epstein syndrome |
Epstein syndrome is one form of the ``MYH9 syndrome'' (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome), characterised by usually severe macrothrombocytopenia but paradoxically resulting in few if any symptoms. Macrothrombocytopenia is defined as the presence of giant platelets, with a diameter equal to or greater than that of a red blood cell. Epstein syndrome clinically resembles Fechtner syndrome (renal involvement marked by interstitial glomerulonephritis and sensorineural deafness associated with thrombopenia), but it can be distinguished by the absence of cataract. |
