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Dor abdominal aguda como apresentaĆ§Ć£o de porfirias
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Advisor(s)
Abstract(s)
As porfirias sĆ£o um grupo de oito doenƧas metabĆ³licas raras, em resultado
de uma deficiĆŖncia enzimĆ”tica em cada uma das oito enzimas envolvidas
na biossĆntese do grupo heme. SĆ£o doenƧas maioritariamente hereditĆ”rias,
mas podem tambĆ©m ser adquiridas aquando da exposiĆ§Ć£o a certos fatores
ambientais e/ou patolĆ³gicos. Estes fatores externos, denominados de porfirinogĆ©nicos
tambĆ©m tĆŖm um papel preponderante no diagnĆ³stico das porfirias,
uma vez que mimetizam os sintomas clĆnicos de um ataque agudo de
porfiria, contribuindo para subestimar esta doenƧa, levando a um atraso no
diagnĆ³stico e diminuĆdo o sucesso do prognĆ³stico. Os ataques agudos de
porfiria, nomeadamente na porfiria aguda intermitente, porfiria variegata,
coproporfiria hereditĆ”ria, e deficiĆŖncia da desidratase do Ć”cido delta-aminolevulĆnico,
apesar de serem doenƧas multissistĆ©micas, tĆŖm em comum
como apresentaĆ§Ć£o clĆnica, a dor abdominal aguda. A pesquisa de porfobilinogĆ©nio
(PBG) na urina, atravĆ©s da realizaĆ§Ć£o do teste de Hoesch, Ć© uma
forma rĆ”pida e fĆ”cil de excluir a suspeita clĆnica de porfiria. Pretendemos
com este trabalho, alertar para a necessidade de um diagnĆ³stico laboratorial
atempado, que pela sua simplicidade poderĆ” descartar ou confirmar se
a dor abdominal aguda, tĆ£o frequente nas urgĆŖncias hospitalares, serĆ” ou
nĆ£o uma manifestaĆ§Ć£o clĆnica de um ataque agudo de porfiria. Este estudo
contribuirĆ” nĆ£o sĆ³ para aumentar o nosso conhecimento acerca destas doenƧas,
como tambĆ©m permitirĆ” uma melhor compreensĆ£o dos mecanismos
de patogenicidade das porfirias, o qual ainda permanece pouco conhecido.
Hereditary porphyria is a group of eight metabolic disorders resulting from a variable catalytic defect of eight enzymes involved in the heme biosynthesis pathway. They are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. Acute attacks of porphyria, namely acute intermittent porphyria, variegate porphyria, hereditary coproporphyria and the porphyria associated with deficiency of the enzyme Ī“-aminolaevulinic acid (ALA) dehydratase, although multisystem diseases with a variety of clinical features, have in common the abdominal pain. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory. Urine quick test for phorphobilinogen (PBG) ā Hoesch test, is a quick and easy way to test for porphyria. The aim of this paper is to alert for the necessity of screening for the acute attacks of porhyria, in presence of an unexplained severe abdominal pain, providing some recommendations for the diagnostic steps of acute porphyries. Finally, the more we know about these diseases the more we can contribute to the understanding of porphyric neuropathy pathogenesis.
Hereditary porphyria is a group of eight metabolic disorders resulting from a variable catalytic defect of eight enzymes involved in the heme biosynthesis pathway. They are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. Acute attacks of porphyria, namely acute intermittent porphyria, variegate porphyria, hereditary coproporphyria and the porphyria associated with deficiency of the enzyme Ī“-aminolaevulinic acid (ALA) dehydratase, although multisystem diseases with a variety of clinical features, have in common the abdominal pain. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory. Urine quick test for phorphobilinogen (PBG) ā Hoesch test, is a quick and easy way to test for porphyria. The aim of this paper is to alert for the necessity of screening for the acute attacks of porhyria, in presence of an unexplained severe abdominal pain, providing some recommendations for the diagnostic steps of acute porphyries. Finally, the more we know about these diseases the more we can contribute to the understanding of porphyric neuropathy pathogenesis.
Description
Keywords
DoenƧas Raras DoenƧas GenĆ©ticas DoenƧas MetabĆ³licas Porfirias
Pedagogical Context
Citation
Boletim EpidemiolĆ³gico ObservaƧƵes. 2015;5(Supl 7):29-32
Publisher
Instituto Nacional de SaĆŗde Doutor Ricardo Jorge, IP