Successful photo- and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II

Scandinavian Journal of Gastroenterology

Volumn 40, Issue 9, 2005, Pages 1124-1126

  Holstein, Andreas ^a   Plaschke, Armin ^a   Lohse, Peter ^b   Egberts, Eick Hartwig ^a  

^a KLINIKUM LIPPE DETMOLD   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

Carbamazepine; Crigler Najjar syndrome type II; Kernicterus; Phenobarbital; Phototherapy; UGT1A1; Unconjugated hyperbilirubinemia

Indexed keywords

BILIRUBIN; PHENOBARBITAL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CRIGLER NAJJAR SYNDROME; DRUG INHIBITION; FEMALE; HUMAN; LABORATORY TEST; NEWBORN JAUNDICE; PHOTOTHERAPY; PREGNANCY DISORDER; PRIORITY JOURNAL; TREATMENT OUTCOME;

EID: 24744451799     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Crigler JF Jr, Najjar VA. Congenital familial non-hemolytic jaundice with kernicterus. Pediatrics 1952;10:169-79.
2. Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronosyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogenenity. Am J Med 1969;47:395-409.
3. Tukey RH, Strassburg CP. Human UDP-glucuronosyltransferase: metabolism, expression and disease. Annu Rev Pharmacol Toxicol 2000;40:581-619.
4. Bosma PJ, Goldhoorn B, Oude Elferink RP, Sinaasappel M, Oostra BA, Jansen PL. A mutation in bilirubin uridine 5′-diphosphate- glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 1993;105:216-20.
5. Cahill DJ, McCarthy CF. Pregnancy and the Crigler-Najjar syndrome. J Obstet Gynaecol 1989;9:213-8.
6. Taylor WG, Walkinshaw SA, Farquharson RG, Fisken RA, Gilmore IT. Pregnancy in Crigler-Najjar syndrome. Case report. Br J Obstet Gynaecol 1991;98:1290-1.
7. Ito T, Katagiri C, Ikeno S, Takahashi H, Nagata N, Terakawa N. Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. J Obstet Gynaecol Res 2001;27:33-5.
8. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP- glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333:1171-5.
9. Aono S, Yamada Y, Keino H, Kanada N, Nakagawa T, Sasaoka Y, et al. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 1993;197:1239-44.
10. Shapiro SM. Definition of the clinical spectrum of kernicterus and bilirubin-induced neurologic dysfunction (BIND). J Perinatol 2005;25:54-9.
11. Kaneko S, Battino D, Andermann E, Wada K, Kan R, Takeda A, et al. Congenital malformations due to antiepileptic drugs. Epilepsy Res 1999;33:145-58.
12. Holmes LB, Wyszynski DF, Lieberman E. The AED (antiepileptic drug) pregnancy registry: a 6-year experience. Arch Neurol 2004;61:673-8.
13. Bittigau P, Sifringer M, Genz K, Reith E, Pospischil D, Govindarajalu S, et al. Antiepileptic drugs and apoptotic neurodegeneration in the developing brain. Proc Natl Acad Sci USA 2002;99:15089-94.
14. Bittigau P, Sifringer M, Ikonomidou C. Antiepileptic drugs and apoptosis in the developing brain. Ann NY Acad 2003;993:103-14.