Porphyrias (Q40109): Difference between revisions
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As porfirias constituem um grupo de doenças caracterizadas por manifestações neuro-viscerais intermitentes, lesões cutâneas ou pela combinação de ambas. Todas as porfirias são causadas por uma deficiência em uma das enzimas da via de biossíntese do heme, resultando em um acúmulo de porfirinas e/ou seus precursores no fígado ou na medula óssea. Os sinais clínicos da doença geralmente aparecem na idade adulta, mas algumas porfirias afetam as crianças. As porfirias podem ser classificadas de acordo com a localização principal da anomalia metabólica. A neurotoxicidade direta ou indireta pode causar manifestações neurológicas. A transmissão das porfirias hereditárias é autossômica e dominante com penetrância fraca ou recessiva com penetrância completa. O diagnóstico é baseado principalmente na dosagem de porfirinas e seus precursores em amostras biológicas. | |||
| description / en | description / en | ||
Porphyrias constitute a group of diseases characterised by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. All porphyrias are caused by a deficiency in one of the enzymes of the heme biosynthesis pathway resulting in an accumulation of porphyrins and/or their precursors in the liver or bone marrow. Clinical signs of the disease usually appear in adulthood, but some porphyrias affect children. Porphyrias can be classified according to the main location of the metabolic anomaly. Direct or indirect neurotoxicity may cause neurological manifestations. Transmission of hereditary porphyrias is autosomal and either dominant with weak penetrance or recessive with complete penetrance. Diagnosis is mainly based on the measurement of porphyrins and their precursors in biological samples. | |||
Revision as of 05:47, 13 August 2026
Porphyrias constitute a group of diseases characterised by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. All porphyrias are caused by a deficiency in one of the enzymes of the heme biosynthesis pathway resulting in an accumulation of porphyrins and/or their precursors in the liver or bone marrow. Clinical signs of the disease usually appear in adulthood, but some porphyrias affect children. Porphyrias can be classified according to the main location of the metabolic anomaly. Direct or indirect neurotoxicity may cause neurological manifestations. Transmission of hereditary porphyrias is autosomal and either dominant with weak penetrance or recessive with complete penetrance. Diagnosis is mainly based on the measurement of porphyrins and their precursors in biological samples.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C58.1 |
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| English | Porphyrias |
Porphyrias constitute a group of diseases characterised by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. All porphyrias are caused by a deficiency in one of the enzymes of the heme biosynthesis pathway resulting in an accumulation of porphyrins and/or their precursors in the liver or bone marrow. Clinical signs of the disease usually appear in adulthood, but some porphyrias affect children. Porphyrias can be classified according to the main location of the metabolic anomaly. Direct or indirect neurotoxicity may cause neurological manifestations. Transmission of hereditary porphyrias is autosomal and either dominant with weak penetrance or recessive with complete penetrance. Diagnosis is mainly based on the measurement of porphyrins and their precursors in biological samples. |
