Yenidoğan ve süt çocukluğunda kolestaz

Yenidoğan ve süt çocukluğu döneminde kolestatik karaciğer hastalıklarında buna neden olabilecek hastalığın ortaya koyulması önemlidir. Kolestaz, direkt bilirübinin total bilirübin miktarının %20’sinden fazla olmasıdır. Özellikle safra yolları atrezisi, tirozinemi, galaktozemi gibi hastalıklarda erken tanı, ileriye dönük kalıcı hasarların önlenmesi ve erken tedaviden fayda görülmesi açısından önemlidir. Dolayısı ile iki haftayı geçmiş sarılığı olan tüm yenidoğanlarda bilirübin, total, direkt, indirekt olarak bakılmalıdır; total bilürübinin %20’si direkt bilirübin ise karaciğer ile ilgili bozukluklar irdelenmelidir. Bu derlemede kolestatik karaciğer hastalıklarında nedenin ortaya koyulması açısından klinik ve laboratuvar olarak nelere dikkat edilmesi gerekir, bunu göstermeyi amaçladık.

Cholestasis in newborn and infancy period

During the newborn and infancy period, it is an important to demonstrate the condition which causes cholestatic liver diseases. If direct bilirubin level is more than 20% of total bilirübin, it is defined as cholestasis. Especially early diagnosis of diseases including biliary atresia, tyrosinaemia, galactosaemia is crucial for prevention of permanent damage in the future and for benefit from early treatment. Therefore, total, direct and indirect bilirübin levels should be measured in all newborns with jaundice lasting more than two weeks. If 20% of total bilirubin is direct bilirubin, liverrelated disorders should be questioned. In this review, we aimed to show which clinical and laboratory features should be considered to demonstrate the cause of cholestatic diseases.

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  • 1. American Academy of Pediatrics Subcommittee on hyperbilirubinemia. Clinical practice guideline management of hiperbilirubinemia in the newborn infant 35 or more weeks of gestation (editorial). Pediatrics 2004; 114: 297-316.[Özet]
  • 2. Kasai M, Watanabe I, Ohi R. Follow-up studies of long term survivors after hepatic portoenterostomy for ‘noncorrectible’ biliary atresia. J Pediatr Surg 1975; 10: 173-82. [Özet]
  • 3. De Bruyne R, Van Biervliet S, Vande Velde S, Van Winckel M. Clinical practice neonatal cholestasis. Eur J Pediatr 2011; 170: 279-84. [Özet]
  • 4. Makin E, Quaglia A, Kvist N, Petersen BL, Portmann B, Davenport M. Congenital biliary atresia: liver injury begins at birth. J Pediatr Surg 2009; 44: 630-3. [Özet]
  • 5. Moyer V, Freese DK, Whitington PF, et al. Guideline for the evaluation of cholestatic jaundice in infants: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2004; 39(2): 115-28. [Özet]
  • 6. Mowat AP, Psacharopoulos HT, Williams R. Extrahepatic biliary atresia versus neonatal hepatitis: review of 137 prospectively investigated infants. Arch Dis Child 1976; 6: 471-85. [Özet]
  • 7. Alagille D. Cholestatic in the first three months of life. Prog Liver Dis 1979; 6: 471-85. [Özet]
  • 8. Dehghani SM, Haghighat M, Imanieh MH, Geramizadeh B. Comparison of different diagnostic methods in infants with cholestasis. World J Gastroenterol 2006; 12(36): 5893-6. [Özet]
  • 9. Humphrey TM, Stringer MD. Biliary atresia: US diagnosis. Radiology 2007; 244(3): 845-51.
  • 10. McKiernan PJ, Baker AJ, Kelly DA. The frequency and outcome of biliary atresia in the UK and Ireland. Lancet 2000; 355(9197): 25-9. [Özet]
  • 11. Santos JL, Kieling CO, Meurer L, et al. The extent of biliary proliferation in liver biopsies from patients with biliary atresia at portoenterostomy is associated with the postoperative prognosis. J Pediatr Surg 2009;44: 695-701. [Özet]
  • 12. Yuan-Tsong Chen. Defects in galactose metabolism. In: Behrman RE, Kliegman RM, Jenson HB, (eds). Nelson textbook of pediatrics. 17th ed. Pennsylvania: Saunders, 2004: 475-6.
  • 13. Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF. Living with classical galactosemia: health-related quality of life consequences. Pediatrics 2004; 113: 423-8. [Özet]
  • 14. Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 1992; 90: 1185-92. [Özet]
  • 15. Mitchell GA, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly W, Valle D (eds). The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995; 1077-106.
  • 16. Sander J, Janzen N, Peter M, et al. Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Clin Chem 2006; 52: 482-7. [Özet]
  • 17. Ruiz M, Sanchez-Valverde F, Rolman J, Gomez L. Dietary treatment of inborn errors of metabolism diseases. 2ed. Madrid: Drug Farma, 2007: 111-313.
  • 18. Santra S, Baumann U. Experiencia com nitisinona para el tratamiento farmacológico de la tirosinemia hereditaria tipo 1. Expert Opin Pharmacother 2008; 9: 1229-36.
  • 19. Brantly M, Nukiwa T, Crystal G. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 1982;84: 12-31. [Özet]
  • 20. Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its clinical consequenties. Orphanet J Rare Dis 2008; 3: 16-7. [Özet]
  • 21. Hutchinson DCS. Natural history of alpha-1-protease inhibitor deficiency. Am J Med 1988; 84: 3-12. [Özet]
  • 22. Brantly M. Efficient and accurate approaches to the laboratory diagnosis of alpha 1-antitrypsin deficiency: the promise of early diagnosis and intervention. Clin Chem 2006; 52: 2180-1. [Özet]
  • 23. de Serres FJ. Worlwide racial and ethnic distribution of alpha-antitrypsin deficiency. Summary of an analysis of published genetic epidemiologic surveys. Chest 2002; 122: 1818-29. [Özet]
  • 24. Moskowitz SM, Gibson RL, Effmann EL. Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment. Pediatr Radiol 2005; 35: 739-57. [Özet]
  • 25. Zielenski J, Patrizio P, Corey M, et al. CFTR gene variant for patients with congenital absence of vas deferens. Am J Hum Genet 1995; 57: 958-60. [Özet]
  • 26. Blackman SM, Deering-Brose R, McWilliams R, et al. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology 2006; 131: 1030-9. [Özet]
  • 27. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998; 132: 589-95. [Özet]
  • 28. De Boeck K, Weren M, Proesmans M, Kerem E. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. Pediatrics 2005; 115: 463-9. [Özet]
  • 29. Colombo C, Russo MC, Zazzeron L, Romano G. Liver disease in cystic fibrosis. J Pediatr Gastroenterol Nutr 2006; 43(Supll 1): 49-55. [Özet]
  • 30. Cystic Fibrosis Foundation. CFF Patient Registry. Bethesda, Maryland: 2005.
  • 31. Fridell JA, Bond GJ, Mazariegos GV, et al. Liver transplantation in children with cystic fibrosis: a long-term longitudinal review of a single center’s experience. J Pediatr Surg 2003; 38: 1152-6. [Özet]
  • 32. Horslen S, Sweet S, Gish RG, Shepherd R. Model for end-stage liver disease (MELD) exception for cystic fibrosis. Liver Transpl 2006; 12: 98 9. [Özet]
  • 33. Jacquemin E. Progressive familial intrahepatic cholestasis. J Gasroenterol Hepatol 1999; 14: 594-9. [Özet]
  • 34. Schneider BL. Genetic cholestasis syndromes. J Pediatr Gastroenterol Nutr 1999; 28: 124-31. [Özet]
  • 35. Bull LN, van Eijk MJT, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998; 18: 219-23. [Özet]
  • 36. de Vree JM, Jacquemin E, Sturm E, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 1998; 95: 282-7. [Özet]
  • 37. van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, Houwen RH. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continum. J Hepatol 2002; 36: 439-43. [Özet]
  • 38. Brenard R, Geubel AP, Benhamou JP. Benign recurrent intrahepatic cholestasis: a report of 26 cases. J Clin Gastroenterol 1989; 11: 546-51.[Özet]
  • 39. Lazaridis KN, Gores GJ, Lindor KD. Ursodeoxycholic acid ‘mechanisms of action and clinical use in hepatobiliary disorders’. J Hepatol 2001; 35: 134-46. [Özet]
  • 40. Deleunay JL, Durand-Schneider AM, Delautier D, et al. A missense mutation in ABCB4 gene involved in progressiv familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology 2009; 49: 1218-27. [Özet]
  • 41. Jacquemin E, Setchell KD, O’Connel NC, et al. A new cause of progressive intrahepatic cholestasis. 3β-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr 1994; 125: 379-84. [Özet]
  • 42. Rebhandl W, Felberbauer FX, Huber WD, et al. Progressive familial intrahepatic cholestasis (Byler disease): current genetics and therapy. Klin Padiatr 2000; 212: 64-70. [Özet]
  • 43. Ismail H, Kalicinski P, Markiewicz M, et al. Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transplant 1999; 3: 219-24.
  • 44. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human jagged 1 gene are responsible for Alagille syndrome. Nat Genet 1997; 16: 235-42. [Özet]
  • 45. McDaniell R, Warthen DM, Sanchez-Lara PA, et al. NOTCH2 mutations cause Allagile syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006; 79: 169-73. [Özet]
  • 46. Alagille D, Odièvre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformation, retarded physical, mental and sexual development and cardiac murmur. J Pediatr 1975; 86: 63-71. [Özet]
  • 47. D’Apolito O, Pianese P, Salvia G, et al. Plasma levels of conjugated bile acids in newborns after a short period of parenteral nutrition. J Parenter Enteral Nutr 2010; 34: 538-41. [Özet]
  • 48. Chirico G, Barbieri F, Chirico C. Antibiotics for the newborn. J Matern Neonatal Med 2009; 22: 46-9.
  • 49. Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mithochondrial carrier protein. Nat Genet 1999; 22: 159-63. [Özet]
  • 50. Tazawa Y, Kobayashi K, Abuwaka D, et al. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. Mol Genet Metab 2004; 83: 213-9. [Özet]
  • 51. Fraile PQ, Hernandez EM, Martinez de Aragon A, et al. Niemann-Pick type C disease: from neonatal cholestasis to neurological degeneration. Different phenotypes. An Pediatr (Barc) 2001; 73: 257-63.[Özet]