Fechtner syndrome (Q68131): 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 Fechtner é uma das síndromes MYH9 (um grupo que inclui quatro formas clínicas com manifestações semelhantes resultantes de mutações no gene MYH9: anomalia de May-Hegglin e síndromes de Sebastian e Epstein) que são caracterizadas por uma macrotrombocitopenia que geralmente é grave mas paradoxalmente resulta em poucos ou nenhum sintoma. A macrotrombocitopenia é definida pela presença de plaquetas gigantes, com diâmetro igual ou superior ao diâmetro de uma hemácia. A síndrome de Fechtner associa de forma inconstante comprometimento renal (glomerulonefrite intersticial), surdez neurossensorial (especialmente na faixa de alta frequência) e catarata (potencialmente bilateral). | |||
| description / en | description / en | ||
Fechtner syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Sebastian and Epstein syndromes) which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. Macrothrombocytopenia is defined by the presence of giant platelets, with a diameter equal or superior to the diameter of a red cell. Fechtner syndrome inconstantly associates renal involvement (interstitial glomerulonephritis), sensorineural deafness (especially in the high frequency range), and cataract (potentially bilateral). | |||
Revision as of 15:59, 14 August 2026
Fechtner syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Sebastian and Epstein syndromes) which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. Macrothrombocytopenia is defined by the presence of giant platelets, with a diameter equal or superior to the diameter of a red cell. Fechtner syndrome inconstantly associates renal involvement (interstitial glomerulonephritis), sensorineural deafness (especially in the high frequency range), and cataract (potentially bilateral).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1993570575 |
||
| English | Fechtner syndrome |
Fechtner syndrome is one of the MYH9 syndromes (a group that includes four clinical forms with similar manifestations resulting from mutations in the MYH9 gene: May-Hegglin anomaly and Sebastian and Epstein syndromes) which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. Macrothrombocytopenia is defined by the presence of giant platelets, with a diameter equal or superior to the diameter of a red cell. Fechtner syndrome inconstantly associates renal involvement (interstitial glomerulonephritis), sensorineural deafness (especially in the high frequency range), and cataract (potentially bilateral). |
