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 Godina 2006     Volumen 31     Broj 4
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UDK: 616.1-056.7-053.6 ISSN 0350-2899 31 (2006) 4 p. 176-179
   
Prikaz bolesnika

Kongenitalna eritropoetična porfirija u pubertetu - prikaz slučaja

Sabhiya Majid (1), Qazi Massod Ahmad (2), Iffat Hassan (2),
Syed Nissar (3), Farah Sameena (2), Massarat Rasool (1)
(1) Department of Beiochemistry Government College and Associated Hostpital Srinagar, Jammu and Kashmir, India, (2) Department of Dermatology Government Medical College and Associated Hostpital Srinagar, Jammu and Kashmir, India, (3) Department of Endocrinology S. K.  Institute of Medical Sciences Soura, Jammu and Kashmir, India

  
 

 

  
  Sažetak:
Kongenitalna eritropoetička porfirija (KEP) ili Gunther-ova bolest je ekstremno retka, autozomno recesivna nasledna bolest, gde dolazi do oštećenja metabolizma hemoglobina. Primarna abnormalnost je smanjena aktivnost uroporfirinogen-3-kosintetaze koja rezultuje akumulacijom i hiperekskrecijom biološki inaktivnog porfirina tipa I. Karakteristična crvenoljubičasta fluorescencija se može primetiti na zubima, urinu, fecesu, plazmi i eritrocitima kada se izlože dugim ultraljubičastim talasima pod Wood-ovom lampom. Klinički, ovo nije akutni tip porfirije, detektuje se u detinjstvu. Karakteristične kliničke promene su predstavljen ekstremnom kutanom fotosenzitivnošću, plikovima, ožiljcima, miliformnim formacijama, hiper- i hipopigmentacijom fotoeksponiranih površina. Hemolitička anemija sa splenomegalijom, akro-osteolizom i mali rast mogu biti prisutni. Dužina života je obično smanjena [1-7]. Do sada je opisano samo oko 200 slučajeva ove bolesti. Do objavljivanja ovog rada, zabeleženo je 12 slučajeva pojave porfirije kod odraslih. U radu je prikazan pacijent sa KEP koji ima hemolitičku anemiju. Kod ovog dečaka iz Kašmira bolest se pojavila sa pubertetom.
Ključne reči: kongenitalna eritropoetička porfirija, porfirija profil, fotosenzitivnost

Napomena: ceo tekst na engleskom jeziku
Note: full text in English
 

  
 

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  Adresa autora:
Sabhiya Majid
Govt. Medical College Srinagar,
Jammu and Kashmir, India
Res : 0194 -2434214, Mob : 9419011275
email: sabumajid@yahoo.com

Rad predat: 25.05.2006.
Rad prihvaćen: 10.12.2006.
Elektronska verzija objavljena: 31.01.2007.		  
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