Dubin-Johnson Sendromu tanılı bir olgu nedeniyle konjuge hiperbilirubinemiler
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Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Dicle Üniversitesi Tıp Fakültesi
Erişim Hakkı
Attribution-NonCommercial 3.0 United States
info:eu-repo/semantics/openAccess
info:eu-repo/semantics/openAccess
Özet
Dubin-Johnson sendromu (DJS) hafif derecede kronik konjuge
hiperbilirübinemi ile karakterize nadir görülen bir hastalıktır. Bu konjenital
sendromda, konjuge anyonların safra kanalikülüne itrahında bozukluk vardır.
Safra asitlerinin atılımı genellikle normaldir. DJS’lu hastalarda multidrug
resistans related protein (MRP-2) geninde farklı mutasyonlar tespit edilmiştir.
Hastalar asemptomatik olmakla birlikte bazen müphem karın ağrısı, hafif
sarılık, halsizlik gibi bünyesel semptomlar görülebilir. Ondokuz yaşında erkek
hasta doğduğundan beri mevcut olan sarılık yakınması ile kliniğe yatırıldı.
Hastada müphem karın ağrısı ve sarılık mevcuttu. Kaşıntı yoktu. Tam kan
sayımı, protrombin zamanı ve serum tarnsaminazlar, alkalen fosfataz, safra
asitleri, kolesterol ve albumin değerleri normal sınırlardaydı. Serum total
bilirübin konsantrasyonu 6,5 mg/dL, direkt bilirübin konsantrasyonu 4.9 mg/dL
idi. 99mTc-HIDA ile yapılan hepatobiliyer sintigrafi incelemesinde karaciğer
normal olup safra kesesi ise enjeksiyondan sonra geç görüntülendi. Karaciğer
biyopsisinde santral ven çevresinde yoğun pigmentasyon izlendi. Bu yazıda
konjuge hiperbilirübineminin nadir nedenlerinden biri olan Dubin-Johnson
sendromunu sunmayı ve herediter sarılık ayırıcı tanısını vurgulamayı
amaçladık.
Dubin-Johnson Syndrome (DJS) is a rare entity and characterized by mild, chronic, conjugated hyperbilirubinemia. The abnormality of this congenital syndrome is excretion of conjugated anions into the bile canaliculus. However, acid excretion into bile is usually normal. Different mutations in multidrug resistans related protein (MRP-2) gene were identified in patients with DJS. These patients are asymptomatic and sometimes can occur constitutional symptoms such as weakness, mild icterus and abdominal pain. A 19-years-oldmale patient admitted with icterus lasting since the neonatal period. He had vague abdominal pain and icterus. Pruritus was absent. Complete blood count, prothrombin time, transaminases, alkaline phosphatase, serum levels of bile acids, cholesterol and albumin were all normal. Serum total bilirubin concentration was 6,5 mg/dL, direct bilirubin concentration was 4.9 mg/dL. Hepatobilliary scan with 99mTc-HIDA excretion showed a normal liver and the gallbladder was visualized late after dye injection. Liver biopsy showed dense pigmentation around central vein. In this report we aimed to introduce a rare condition of conjugated hyperbilirubinemia diagnosed as Dubin-Johnson Syndrome and to make a point of view to differential diagnosis in hereditary jaundice.
Dubin-Johnson Syndrome (DJS) is a rare entity and characterized by mild, chronic, conjugated hyperbilirubinemia. The abnormality of this congenital syndrome is excretion of conjugated anions into the bile canaliculus. However, acid excretion into bile is usually normal. Different mutations in multidrug resistans related protein (MRP-2) gene were identified in patients with DJS. These patients are asymptomatic and sometimes can occur constitutional symptoms such as weakness, mild icterus and abdominal pain. A 19-years-oldmale patient admitted with icterus lasting since the neonatal period. He had vague abdominal pain and icterus. Pruritus was absent. Complete blood count, prothrombin time, transaminases, alkaline phosphatase, serum levels of bile acids, cholesterol and albumin were all normal. Serum total bilirubin concentration was 6,5 mg/dL, direct bilirubin concentration was 4.9 mg/dL. Hepatobilliary scan with 99mTc-HIDA excretion showed a normal liver and the gallbladder was visualized late after dye injection. Liver biopsy showed dense pigmentation around central vein. In this report we aimed to introduce a rare condition of conjugated hyperbilirubinemia diagnosed as Dubin-Johnson Syndrome and to make a point of view to differential diagnosis in hereditary jaundice.
Açıklama
Anahtar Kelimeler
Dubin-Johnson Sendromu, Herediter hiperbilirübinemi, İkter, Dubin-Johnson Syndrome, Hereditary hyperbilirubinemia, Icterus
Kaynak
Dicle Tıp Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
35
Sayı
3
Künye
Bayan, K., Tüzün, K., Özcan, M., Yılmaz, Ş. ve Turgutalp, S. (2008). Dubin-Johnson Sendromu tanılı bir olgu nedeniyle konjuge hiperbilirubinemiler. Dicle Tıp Dergisi, 35(3), 196-200.
