E-resources
-
Bălaşa, Rodica; Maier, Smaranda; Moţăţăianu, Anca; Bajko, Zoltan; Moldovan, Otilia; Benedek, Erzsébet
Revista română de medicină de laborator, 9/2014, Volume: 22, Issue: 3Journal Article
Acute intermittent porphyria (AIP) is a metabolic disease with an autosomal dominant inheritance, with porphobilinogen (PBG) deaminase as the deficient enzyme in heme biosynthetic pathway at cytosolic subcellular locations. This diagnosis must be evoked in all adults with unexplained symptoms, but some clinical features are suggestive: women with reproductive age; abdominal pain; muscle weakness; sever and prolonged hyponatremia; dark or reddish urine. The authors present a fatal case of a 39-years old female who presented acute abdominal pain followed by severe peripheral nervous system lesions with tetraplegia. Urine analysis showed enormously increased levels of porphirins, PBG and Δ aminolevulinic acid. The diagnosis of AIP was established and even if the correct treatment (Hemine, glucose) was administrated, the patient died after 3 weeks from onset due to a septic shock. The authors discuss the laboratory abnormalities that are found in AIP and also the pathogenesis of the acute attack of AIP as well as the mechanism of severe nervous system damage that is less understood. In conclusion, laboratory testing must be performed early and if a diagnose of AIP is not made promptly serious consequences may follow for the patient. Porfiria acută intermitentă (PAI) este o boală metabolică, cu transmitere autosomal dominantă, cu alterarea căii de biosinteză a hemului prin deficitul enzimei porphobilinogen (PBG) dezaminaza. Acest diagnostic trebuie să fie evocate în toate cazurile de adultii care prezintă simptome inexplicabile, dar cu unele caracteristici clinice sugestive: femei cu vârstă reproductivă, dureri abdominale, slăbiciune musculară, hiponatremie prelungită şi severă, urină închisă la culoare sau roşie. Autorii prezinta un caz fatal de PAI la o femeie de 39 de ani, care a prezentat dureri abdominale acute, urmate de leziuni severe ale sistemului nervos periferic cu tetraplegie. Analiza urinei a arătat nivelurile de porfirine, PBG şi de acid aminolevulinic Δ crescute enorm. Diagnosticul de PAI a fost stabilit şi, chiar dacă tratamentul corect (heminei, glucoza ) a fost administrat, pacienta a decedat după trei săptămâni de la debut prin şoc toxico-septic. Autorii discuta despre diagnosticul de laborator din PAI şi, de asemenea, patogeneza atacului acut de PAI, precum şi mecanismul de producere a leziunilor severe ale sistemului nervos, care este mai puţin înţeles. În concluzie, testele de laborator trebuie efectuate cât mai precoce deoarece neglijarea unui diagnostic de PAI poate avea consecinţe grave pentru pacienţi.
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.