Hereditary methaemoglobinaemia (Q39674): Difference between revisions
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Metemoglobinemia hereditária é um transtorno raro da hemácia classificada principalmente em dois fenótipos clínicos: metemoglobinemia congênita autossômica recessiva (ou hereditária) tipos I e II (RCM/RHM tipo I; RCM/RHM tipo 2). Na RCM tipo 1, cianose bem tolerada desde o nascimento é o único sintoma. RCM tipo 2, com perda global da função do Cb5R, é muito mais grave; a cianose é acompanhada por disfunção neurológica (com déficit intelectual, microcefalia, retardo do crescimento, opistótono, estrabismo e hipertonia), que geralmente se torna evidente durante os primeiros quatro meses de vida. | |||
| description / en | description / en | ||
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. | |||
Revision as of 05:10, 13 August 2026
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A92 |
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| English | Hereditary methaemoglobinaemia |
Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, well-tolerated cyanosis from birth is the only symptom. RCM type 2, with global loss of Cb5R function, is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. |
