Porphyric neuropathy.
Muscle Nerve
; 64(2): 140-152, 2021 08.
Article
em En
| MEDLINE
| ID: mdl-33786855
ABSTRACT
Acute hepatic porphyrias are inherited metabolic disorders that may present with polyneuropathy, which if not diagnosed early can lead to quadriparesis, respiratory weakness, and death. Porphyric neuropathy is an acute to subacute motor predominant axonal neuropathy with a predilection for the upper extremities and usually preceded by a predominantly parasympathetic autonomic neuropathy. The rapid progression and associated dysautonomia mimic Guillain-Barré syndrome but are distinguished by the absence of cerebrospinal fluid albuminocytologic dissociation, progression beyond 4 wk, and associated abdominal pain. Spot urine test to assess the porphyrin precursors delta-aminolevulinic acid and porphobilinogen can provide a timely diagnosis during an acute attack. Timely treatment with intravenous heme, carbohydrate loading, and avoidance of porphyrinogenic medications can prevent further neurological morbidity and mortality.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Polineuropatias
/
Porfirias Hepáticas
/
Doenças do Sistema Nervoso Periférico
/
Sintase do Porfobilinogênio
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos