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Prolonged unconjugated hyperbilirubinemia associated with Crigler-Najjar type 1 syndrome: Case report

Year 2002, Volume: 33 Issue: 2, 54 - 55, 01.03.2002

Gülşah Güven Abdülkadir Bozaykut Lale Pulat Seren Demet Oğuz , Serap Karaman

Abstract

Crigler-Najjar syndrome (CNS) is a rare disorder of bilirubin metabolism caused by the lack or deficiency of the enzyme uridine diphosphate (UDP)- glucuronosyltransferase (UGT). A 2-month-old girl here presented with prolonged jaundice was diagnosed with CNS Type 1 and had been treated by phototherapy. Final diagnose was made after excluding other more common causes of unconjugated hyperbilirubinemia, reviewing the clinical course and response to phenobarbital. Accurate diagnosis of Crigler-Najjar syndrome is important because of the implications for prognosis and treatment. Treatment of CNS Tip 1 consists of the aggressive use of measures to remove bilirubin ( either phototherapy or exchange transfusion), while liver transplantation is the definitive treatment

Keywords

Case report Crigler-Najjar Syndrome Glucuronosyltransferase Infant Newborn

References

  • 1 .Roy C, Silverman A, Alagille D. Unconjugated hyperbiliru-binemia. Pediatr Clin Gastr 4th ed. Missouri: Mosby, Inc, 1995: 20-22 2. Alessio Pigazzi. Crigler-Najjar Syndrome. EMed, 2001. 2: 7 3. Crigler JF, Najjar VA. Congenital familial nonhemolytic jaundice with kericterus. Pediatrics 1952; 10: 169-170 4. Roy C, Silverman A, Alagille D. Crigler-Najjar Syndrome
  • Pediatr Clin Gastr 4th ed. Missouri: Mosby, Inc, 1995: 614-616 5. Jansen PL. Diagnosis and management of Crigler-Najjar syndrome. Eur J Pediatr 1999; 158 : 89-94 6. Sampietro M, lolascon A. Molecular pathology of Crigler-naj- jar type 1 and 2 and Gilbert syndromes. Haematologia 1999; 84:150-57 7. Ciotti M, W erlin SL, Owens IC. Delayed response to pheno- harbital treatment of a Crigler-Najjar type 2 patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene. J Pediatr Gastroenterol Nutr 1999:28:210-13 8. Lee W S, McKiernan P J, Beath S V. Bile bilrubin pigment analyzis in disorders of bilirubin metabolism in early infancy
  • Arch Dis Child 2001; 85(l):38-42 9. Kaneko K, Takei Y, Aoki T, Ikeda S, Matsunami H, Lynch S
  • Bilirubin adsorption therapy and subsequent liver transplanta¬ tion cured severe bilirubin encephalopathy in a long-term survival patient with Crigler-Najjar disease type I. Intern Med
  • 2000; 39(11): 871-2 10. Nazer H, Al-Mehaidib A, Shabib S, Ali MA. Crigler-Najjar syndrome in Saudi Arabia. Am J Med Genet 1998;(79{1): 12-5

Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu

Year 2002, Volume: 33 Issue: 2, 54 - 55, 01.03.2002

Gülşah Güven Abdülkadir Bozaykut Lale Pulat Seren Demet Oğuz , Serap Karaman

Abstract

Crigler-Najjar Sendromu (CNS) üridin difosfoglukronozil transferaz (UGT) enziminin yokluğu ya da azlığı nedeni ile oluşan bilirubin metabolizmasının nadir görülen bir bozukluğudur. Uzamış sarılık nedeni ile başvuran iki aylık kız hastaya CNS Tip l tanısı konularak fototerapi uygulandı. Tanı unkonjuge hiperbilirubinemi yapan diğer nedenlerin ekarte edilmesi, klinik gidişat ve fenobarbitale cevaba göre konuldu. CNS Tip l tanısının doğru olarak konulması prognoz ve tedavi açısından önem arz eder. Tedavi bilirubini uzaklaştıran fototerapi ve exchange transfüzyon gibi yöntemlerin agresif uygulanımım kapsamakla birlikte kesin tedavi karaciğer transplan tasyonudur.

Keywords

Olgu sunumu Crigler-Najjar sendromu Glukuronosiltransferaz Süt çocuğu yenidoğan

References

  • 1 .Roy C, Silverman A, Alagille D. Unconjugated hyperbiliru-binemia. Pediatr Clin Gastr 4th ed. Missouri: Mosby, Inc, 1995: 20-22 2. Alessio Pigazzi. Crigler-Najjar Syndrome. EMed, 2001. 2: 7 3. Crigler JF, Najjar VA. Congenital familial nonhemolytic jaundice with kericterus. Pediatrics 1952; 10: 169-170 4. Roy C, Silverman A, Alagille D. Crigler-Najjar Syndrome
  • Pediatr Clin Gastr 4th ed. Missouri: Mosby, Inc, 1995: 614-616 5. Jansen PL. Diagnosis and management of Crigler-Najjar syndrome. Eur J Pediatr 1999; 158 : 89-94 6. Sampietro M, lolascon A. Molecular pathology of Crigler-naj- jar type 1 and 2 and Gilbert syndromes. Haematologia 1999; 84:150-57 7. Ciotti M, W erlin SL, Owens IC. Delayed response to pheno- harbital treatment of a Crigler-Najjar type 2 patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene. J Pediatr Gastroenterol Nutr 1999:28:210-13 8. Lee W S, McKiernan P J, Beath S V. Bile bilrubin pigment analyzis in disorders of bilirubin metabolism in early infancy
  • Arch Dis Child 2001; 85(l):38-42 9. Kaneko K, Takei Y, Aoki T, Ikeda S, Matsunami H, Lynch S
  • Bilirubin adsorption therapy and subsequent liver transplanta¬ tion cured severe bilirubin encephalopathy in a long-term survival patient with Crigler-Najjar disease type I. Intern Med
  • 2000; 39(11): 871-2 10. Nazer H, Al-Mehaidib A, Shabib S, Ali MA. Crigler-Najjar syndrome in Saudi Arabia. Am J Med Genet 1998;(79{1): 12-5
There are 5 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Gülşah Güven This is me

Abdülkadir Bozaykut This is me

Lale Pulat Seren This is me

Demet Oğuz

Serap Karaman This is me

Publication Date March 1, 2002
Published in Issue Year 2002 Volume: 33 Issue: 2

Cite

APA Güven, G., Bozaykut, A., Seren, L. P., Oğuz, D., et al. (2002). Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu. Zeynep Kamil Tıp Bülteni, 33(2), 54-55. https://doi.org/10.16948/zktb.90803
AMA Güven G, Bozaykut A, Seren LP, Oğuz D, Karaman S. Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu. Zeynep Kamil Tıp Bülteni. March 2002;33(2):54-55. doi:10.16948/zktb.90803
Chicago Güven, Gülşah, Abdülkadir Bozaykut, Lale Pulat Seren, Demet Oğuz, and Serap Karaman. “Crigler-Najjar Tip 1 Sendromuna bağlı uzamış Unkonjuge Hiperbilirubinemi: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 33, no. 2 (March 2002): 54-55. https://doi.org/10.16948/zktb.90803.
EndNote Güven G, Bozaykut A, Seren LP, Oğuz D, Karaman S (March 1, 2002) Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu. Zeynep Kamil Tıp Bülteni 33 2 54–55.
IEEE G. Güven, A. Bozaykut, L. P. Seren, D. Oğuz, and S. Karaman, “Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu”, Zeynep Kamil Tıp Bülteni, vol. 33, no. 2, pp. 54–55, 2002, doi: 10.16948/zktb.90803.
ISNAD Güven, Gülşah et al. “Crigler-Najjar Tip 1 Sendromuna bağlı uzamış Unkonjuge Hiperbilirubinemi: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 33/2 (March 2002), 54-55. https://doi.org/10.16948/zktb.90803.
JAMA Güven G, Bozaykut A, Seren LP, Oğuz D, Karaman S. Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2002;33:54–55.
MLA Güven, Gülşah et al. “Crigler-Najjar Tip 1 Sendromuna bağlı uzamış Unkonjuge Hiperbilirubinemi: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni, vol. 33, no. 2, 2002, pp. 54-55, doi:10.16948/zktb.90803.
Vancouver Güven G, Bozaykut A, Seren LP, Oğuz D, Karaman S. Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2002;33(2):54-5.