Crigler–Najjar syndrome II and pregnancy outcome

Sagili, Haritha; Pramya, N.; Jayalaksmi, D; Rani, Reddi

doi:10.3109/01443615.2011.636158

Cited by 3 publications

(1 citation statement)

References 8 publications

(10 reference statements)

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“…5 Evidence suggests that Crigler-Najjar type II is not associated with maternal risk. 6 However, as unconjugated bilirubin is transported to the fetus from the mother across the placenta there is a risk of kernicterus and sometimes even death. 1,3 Fetal unconjugated bilirubin levels often parallel those found in the mother.…”

Section: Casementioning

confidence: 99%

Crigler-Najjar type II in pregnancy: A case report

Creeper

Graham

2022

Obstet Med

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Crigler-Najjar is a rare, autosomal recessive disorder that results in mutations causing a complete absence (type I) or deficiency (type II) of the hepatic uridine diphospho-glucuronosyl transferase (UDPGT) enzyme. Both forms, however, result in unconjugated hyperbilirubinaemia which can lead to kernicterus and potentially death. Phenobarbitone can be used as an enzyme inducer in Type II to facilitate a reduction in total serum bilirubin. We report two consecutive pregnancies in a 29-year-old woman with Crigler-Najjar Type II syndrome. Phenobarbitone therapy was commenced in the first pregnancy at 16 weeks’ gestation and was associated with favorable biochemical and clinical outcomes. There were no reports of long-term neonatal neurological sequelae. Tertiary center, multidisciplinary care is recommended for optimal pregnancy outcomes.

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Section: Casementioning

confidence: 99%

Crigler-Najjar type II in pregnancy: A case report

Creeper

Graham

2022

Obstet Med

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Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation

Rahim

Galehdari

Mohammadi-Asl

et al. 2013

Genetics Research International

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Aims. This review summarized all available evidence on the accuracy of SNP-based pathogenicity detection tools and introduced regression model based on functional scores, mutation score, and genomic variation degree. Materials and Methods. A comprehensive search was performed to find all mutations related to Crigler-Najjar syndrome. The pathogenicity prediction was done using SNP-based pathogenicity detection tools including SIFT, PHD-SNP, PolyPhen2, fathmm, Provean, and Mutpred. Overall, 59 different SNPs related to missense mutations in the UGT1A1 gene, were reviewed. Results. Comparing the diagnostic OR, our model showed high detection potential (diagnostic OR: 16.71, 95% CI: 3.38–82.69). The highest MCC and ACC belonged to our suggested model (46.8% and 73.3%), followed by SIFT (34.19% and 62.71%). The AUC analysis showed a significance overall performance of our suggested model compared to the selected SNP-based pathogenicity detection tool (P = 0.046). Conclusion. Our suggested model is comparable to the well-established SNP-based pathogenicity detection tools that can appropriately reflect the role of a disease-associated SNP in both local and global structures. Although the accuracy of our suggested model is not relatively high, the functional impact of the pathogenic mutations is highlighted at the protein level, which improves the understanding of the molecular basis of mutation pathogenesis.

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Maternal outcome of Crigler-Najjar syndrome type-2: Case report

Deore¹,

Ahirrao²

2021

IJPP

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Crigler-Najjar Syndrome type 2 [CN-2] is an uncommon inherited disorder characterized by non-hemolytic unconjugated hyperbilirubinemia. It is caused by mutations in one of the five exons of the UGT1A1 gene which codes for the enzyme hepatic uridine diphosphate glucoronosyl transferase-1, required for the conjugation and further excretion of bilirubin from the body via bile. Affected people are usually asymptomatic apart from jaundice and investigations reveal isolated indirect hyperbilirubinemia. It can be conveniently diagnosed by evaluating the response to phenobarbital in terms of reduction in bilirubin levels. Genetic testing confirms the finding of Crigler-Najjar syndrome. At least 20 different mutations of UGT1A1 have been associated with CN-2; all encode a bilirubin-uridine diphosphate glucuronosyl transferase-1 with markedly reduced but detectable enzymatic activity. Bilirubin concentrations are typically lower in CN-2, and plasma bilirubin levels can be reduced to 3 to 5 mg/dL by phenobarbital. Although uncommon in CN-2, bilirubin encephalopathy has occurred at all ages, typically associated with factors that temporarily elevation the plasma bilirubin concentration above baseline e.g. stress, prolonged fasting, an intercurrent illness like influenza. For this reason, phenobarbital therapy is often recommended. CN-2 is infrequent, and only a few pregnancies with this condition have been reported. The objective of the case study is to report a rare case of maternal CN-2 in the pregnancy and to evaluate whether pregnancy is safe in patients with the disease. A 29 years old mother with CN-2 had given birth to a baby girl by spontaneous vaginal delivery without complications. The newborn had mild unconjugated hyperbilirubinemia which was further treated by phototherapy and early morning sunlight. It can be concluded that that pregnancy need not be contraindicated in

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Crigler–Najjar syndrome II and pregnancy outcome

Cited by 3 publications

References 8 publications

Crigler-Najjar type II in pregnancy: A case report

Crigler-Najjar type II in pregnancy: A case report

Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation

Maternal outcome of Crigler-Najjar syndrome type-2: Case report

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