• Alagille Syndrome as the cause of cholestasis in infants (clinical case) 

Alagille Syndrome as the cause of cholestasis in infants (clinical case) 

PERINATOLOGIYA I PEDIATRIYA. 2016.2(66):89-93; doi 10.15574/PP.2016.66.89 
 

Alagille Syndrome as the cause of cholestasis in infants (clinical case) 
 

Berezenko V. S., Mikhailyuk H. Z., Dyba M. B., Tkalik O. M.

Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine, Kyiv, Ukraine 
 

This is the summary of literature statistics and our clinical observation of a child with Alagille syndrome. This syndrome is characterized by chronic intrahepatic cholestasis, facial dysmorphism, congenital cardio — vascular system, skeleton and eye changes, by the presence of characteristic histological criteria of morphological examination of liver biopsy and confirmed by molecular genetic studies of gene mutations or JAGGED1 NOTCH2. Diagnostic aspects of this pathology are considered. 
 

Key words: Alagille syndrome, children. 
 

REFERENCES

1. Gubergrits NB. 2008. Sindrom vnutripechenochnogo holestaza: etiologiya, patogenez, klinika, diagnostika, lechenie. Gazeta «Novosti meditsinyi i farmatsii». Gastroenterologiya (264): 21.

2. Degtyareva AV, Puchkova AA, Tumanova EL. 2014.Sindrom Alazhilya. Pos dlya vrachey. Moskva.

3. Klymenko TM. 2013.Dyferentsiina diahnostyka ta likuvannia syndromu kholestazu u novonarodzhenykh ditei. Zdorove rebenka. 6(49): 137—140.

4. Vozzi D, Licastro S, Martelossi E et al. 2013. Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencingin a Case Previously Found to Be Negativeby DHPLC and MLPA. Mol Syndromol. 4: 207—210.

5. Balisteri WF. 1997. Bile acid therapy in pediatric hepatobiliari desease: the role of ursodeoxycholic acid. J Pediatr Gastroenterol Nutr. 24: 573—589.

6. Cioccaa M, Еlvarezb F. 2012. Sindrome de Alagille. Arch Argent Pediatr. 110(6): 509—515.

7. Jian-She Wang, Xiao-Hong Wang, Qi-Rong Zhu et al. 2008. Clinical and pathological characteristics of Alagille syndrome in Chinese children. World J Pediatr. 4, Nov 15: 283—288.

8. Grochowski CM, Loomes KM, Spinner NB. 2016. Jagged 1 (JAG1): Structure, expression, and disease associations. Gene. 576: 381—384.

9. Lee M, Bass MD, Kamath BM, Chir MBB. 2013. Inherited Disoders of Cholestasis in Adulthood. Clinical Liver Disease. 2; 5: 200—203.

10. Kamath BM, Spinner NB, Emerick KM. 2004. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 109: 1354—1358.

11. Kamath BM, Loomes KM, Piccoli DA. 2010. Medical Management of Alagille Syndrome. JPGN. 50; 6, June: 580—586.

12. Kamath BM, Yin W, Miller H. 2012. Outcomes of Liver Transplantation for Patients With Alagille Syndrome: The Studies of Pediatric Liver Transplantation Expiarience. Liver Transplantation. 18; 8: 940—948.

13. Kamath BM, Bauer RC, Loomes KM et al. 2012. NOTCH2 mutations in Alagille syndrome. J Med Genet. 49(2): 138—144. http://dx.doi.org/10.1136/jmedgenet-2011-100544; PMid:22209762 PMCid:PMC3682659

14. Vazquez-Martinez ER, Varela-Fascinetto G, Garcia-Delgado C et al. 2014. Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population. Meta Gene. 2: 32—40.

15. Kamath BM, Podkameni G, Hutchinson AL et al. 2012. Renal anomalies in Alagille syndrome: A disease-defining feature. Am J Med Genet. 158A: 85—89.

16. Harendza S, Hubner CA, Glaser C et al. 2005. Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. J Nephrol. 312—317.

17. Gliwicz D, Ciara E, Gerfen J et al. 2012. Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. Eur J Hum Genet. 20(3): 251—257.

18. Spinner NB. Leonard LD, Krantz ID. Alagille Syndrome. Gene Reviews Seattle (WA). University of Washington, Seattle. 1993—2015.

19. Sushy FJ, Sokol RDJ, Balistei WF. 2007. Alagille Syndrom. Liver Disease in Children. Cambridge University Press. 326—342.

20. Turnpenny PD. Ellard S. 2012. Alagille syndrome: pathogenesis, diagnosis and management. European Journal of Human Genetics. 20: 251—257.

21. Ziesenitz VC, Loukanov T, Glaser C, Gorenflo M. 2016. Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation. Cardiol Young. 164—167.