Síndrome de Crigler-Najjar: diagnóstico y tratamiento

Torrecilla, B. Lodoso; Palomo-Atance, Enrique; Grande, C. Camarena; Fernández, María Calvo; Llanillo, L Hierro; Bueno, Alba; Remacha, Esteban Frauca; Bartolo, Gema Muñoz; Vega, Paloma Jara

doi:10.1157/13090900

Cited by 12 publications

(6 citation statements)

References 17 publications

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“…Despite the severity of the disease, there are options for treatment of CNS [23][24][25] which include: -Phototherapy: acts by converting a portion of bilirubin in a hydrophilic isomer, which can be excreted in the bile without the need for further conjugation in the liver. This technique involves exposure to light and heat 10-12 h per day [26] .…”

Section: Discussionmentioning

confidence: 99%

Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

Passuello

Puhl²,

Wirth³

et al. 2009

Fetal Diagn Ther

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Objective: To report a case of maternal Crigler-Najjar syndrome (CNS) type II in pregnancy, systematically review the literature for similar case reports, and to evaluate whether pregnancy is safe in patients with the disease. Data sources included the PubMed and uptodate databases. Results: A 37-year-old mother with CNS type II was treated with phenobarbital during her pregnancy and her bilirubin levels were monitored. Her newborn had mild direct hyperbilirubinemia, did not require any treatment and his postnatal follow-up showed normal growth and development as well as normal hearing. Conclusion: CNS type II is rare, and only a few pregnancies with this condition have been reported. Maternal treatment with phenobarbital lowers the unconjugated bilirubin and avoids fetal and newborn sequelae.

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Section: Discussionmentioning

confidence: 99%

Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

Passuello

Puhl²,

Wirth³

et al. 2009

Fetal Diagn Ther

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“…A fototerapia pode ser associada com quelantes biliares (carbonato de cálcio e colestiramina) e plasmaferese. 4,8,9 O objetivo é manter os níveis de bilirrubina indireta abaixo de 20 mg/dL. O único tratamento curativo é o transplante hepático.…”

Section: -46unclassified

“…O uso do fenobarbital reduz os níveis de bilirrubina indireta em 25% e também permite a distinção entre o tipo 1 e o tipo 2, uma vez que no primeiro não há qualquer resposta à sua administração. 4,8 A SCN tipo 2 tem uma evolução clínica mais benigna e é raro o desenvolvimento de kernicterus. Quando este ocorre, geralmente os doentes sofreram algum tipo de intercorrência, como infeção, ou outro tipo de stress.…”

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Síndrome de Crigler-Najjar tipo 2 – um caso atípico

Raposo¹,

Morais²,

Pinheiro³

et al. 2014

Sci Med

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“…218800, 606785) type I and type II are inherited as autosomal recessive conditions that is resulted from mutations in the UGT1A1 gene ( UGT1A1 ; MIM nos. 191740) [1–4]. Type I is characterized by almost complete absence of UGT1A1 enzyme activity, and these patients are refractory to phenobarbital treatment, while type II is a less severe form of deficiency [5, 6].…”

Section: Introductionmentioning

confidence: 99%

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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Síndrome de Crigler-Najjar: diagnóstico y tratamiento

Cited by 12 publications

References 17 publications

Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

Síndrome de Crigler-Najjar tipo 2 – um caso atípico

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

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