Alagille syndrome presenting with chronic renal failure: case report

Yıl 2015, Cilt: 46 Sayı: 1, 36 - 39, 21.01.2015

Selahattin Akar , Sevilay Topçuoğlu , Dilek Yavuzcan Öztürk , Güner Karatekin , Fahri Ovalı

Öz

Introduction: Alagille syndrome is an autosomal dominant disorder that affects intrahepatic bile ducts, skeletal, renal, cardiac, and central nervous system and characterized with typical facial appearance.

Case: A female newborn with the antenatal diagnosis of right hypoplastic kidney was hospitalized following the birth. One of her siblings with Jagged 1 mutation has died because of renal and liver failure. Our case had total and direct hyperbilirubinemia. Renal ultrasonography revealed bilateral dysplastic kidney. Peripheral pulmonary stenosis was diagnosed with echocardiography. She has posterior embryotoxon on eye examination. Although liver biopsy could not be performed because of fungal peritonitis, Allagille syndrome with the renal failure secondary to bilateral dysplastic kidney was thought with the family history, clinical and laboratory findings.

Conclusion: We presented this atypical case coinciding with bilateral congenital dysplastic kidneys and chronic renal failure.

Anahtar Kelimeler

Alagille syndrome, dysplastic kidney, renal failure

Alagille sendromu’na eşlik eden kronik böbrek yetmezliği: olgu sunumu

Öz

Giriş: Alagille Sendromu intrahepatik safra yolları tutulumu,konjenital kalp hastalığı,göz anomalileri,iskelet ve santral sinir sistemi tutulumu,böbrek anomalileri ve tipik yüz görünümü ile karakterize otozomal dominant geçişli bir sendromdur.

Olgu: Antenatal takiplerinde sağ hipoplastik böbrek saptanan kız bebek  doğumdan hemen sonra  tetkik ve tedavi için yenidoğan yoğun bakım ünitesine yatırıldı.Jagged 1 gen mutasyonu saptanan 5 aylık kardeşinin karaciğer ve böbrek yetmezliği nedeniyle vefat  ettiği öğrenildi.Olgumuzda da total bilirubin ve direkt bilirubin hakimiyeti mevcuttu.Renal ultrasonografisi bilateral displastik böbrekle uyumlu olarak rapor edildi.Ekokardiyografisinde  periferik pulmoner stenoz,göz muayenesinde posterior embryotokson saptandı.Hastanın uzun süren fungal peritoniti nedeniyle karaciğer biyopsisi yapılamadı ancak hastada anamnez,klinik ve laboratuar bulgularıyla bilateral displastik böbreğe bağlı kronik böbrek yetmezliği ile birlikte olan Alagille Sendromu düşünüldü.

Sonuç: Nadir saptanan bilateral displastik böbreğe bağlı kronik böbrek yetmezliği ile birlikte olması nedeniyle sunmak istedik.

Anahtar Kelimeler

Alagille Sendromu, displastik böbrek, böbrek yetmezliği

Kaynakça

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