Alagille syndrome presenting with chronic renal failure: case report

Year 2015, Volume: 46 Issue: 1, 36 - 39, 21.01.2015

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

Abstract

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.

Keywords

Alagille syndrome, dysplastic kidney, renal failure

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

Abstract

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.

Keywords

Alagille Sendromu, displastik böbrek, böbrek yetmezliği

References

• Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20:251–257
• Hoffenberg EJ, Narkewicz MR, Sondheimer JM, et. Al. Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995;127:220-4.
• Subramaniam P, Knisely A, Portmann B, Qureshi SA, Aclimandos WA, Karani JB, Baker AJ. Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital. J Pediatr Gastroenterol Nutr 2011;52:84-9.
• Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999;29:822–9.
• Krantz ID, Smith R, Colliton RP, et al. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 1999;84:56–60.
• Krantz ID,Piccoli DA,Spinner NB. Alagille syndrome. J Med Genet. 1997;34:152–157.
• McDonald- McGinn DM, Kirschner R, Goldmuntz E, et.al. The Philidelphia story: the 22q11.2 deletion. Report on 250 patients. Genet Couns 1999; 10:11-24.
• Berrocal T, Gamo E, Navalón J, et al. Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases. Eur Radiol 1997;7:115–118.
• Kamath BM, Stolle C, Bason L, et al. Craniosynostosis in Alagille syndrome. Am J Med Genet. 2002;112:176–180.
• Ryan RS, Myckatyn SO, Reid GD, Munk P. Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review. Skeletal Radiol 2003;32:489–91.
• Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, et al. Renal anomalies in Alagille syndrome: a disease-defining feature. Am J Med Genet 2012;158:85-9.
• Trem WR, Krzymowski GA, Cartun RW, et. al. Cytokeratin immunohistochemical examination of liver biopsies in infant with Alagille syndrome and biliary atresia. J. Pediatr Gastroenterol Nutr 1992; 15:73-80.
• Wolfish NM, Shanon A. Nephropathy in arteriohepatic dysplasia. Child Nephrol Urol 1988- 1989;9:169-72.
• Hirai H, Santo Y, Kogaki S, Kurotobi S, Etani Y,Mushiake S, Nakatsuchi Y, Nakajima S, Ozono K. Successful stenting for renal artery stenosis in a patient with Alagille syndrome. Pediatr Nephrol 2005:831–3.
• Tolia V, Dubois RS, Watts FB Jr, Perrin E. Renal abnormalities in paucity of interlobular bile ducts. J Pediatr Gastroenterol Nutr 1987;6:971–976.
• Chung- Park M, Petrelli M, Tavill AS. et. al. Renal lipidosis associated with arteriohepatic dysplasia. Clin Nephrol 1982; 18:314-20.
• Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS,et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997;16:235–242.
• McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006;79:169–173.
• David A. Picolli. Alagille syndrome. In: F.J. Suchy, R.J. Sokol, W.F. Balıstrerı(eds.) Liver Disease In Children 2nd edition. Phildelphia: Lippincott,Williams &Wilkins; 2001.p.327-42.
• Brodsky MC, Cunniff C. Ocular anomalies in the Alagille syndrome (arteriohepatic dysplasia) Ophthalmology.1993;100:1767–1774.
• Espinoza, H, Cox CJ, Semina, EV, Amendt BA. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum Molec Genet. 2002;11: 743-53.