Neonatal Cholestasis

Lane, Erin R.; Murray, Karen F.

doi:10.1016/j.pcl.2017.01.006

Cited by 47 publications

(42 citation statements)

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“…Genetic variants can explain normal or low serum γ‐glutamyltransferase (GGT) cholestasis in only 75% ~ 80% of paediatric patients 1 . Whole‐exome sequencing (WES) has identified several genes implicated in low‐GGT cholestasis, including USP53 , encoding a protein of uncertain function that associates with cell‐cell tight junctions, which was mutated in one family with cholestasis and hearing loss 2 .…”

Section: Introductionmentioning

confidence: 99%

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Zhang

Yong

Gong

et al. 2020

Liver International

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Background & Aims:In about 20% of children with cholestasis and normal or low serum gamma-glutamyltransferase (GGT) activity, no aetiology is identified. We sought new genes implicated in paediatric hepatobiliary disease. Methods:We conducted whole-exome sequencing in 69 children evaluated at our centre from 2011 to 2018 who had low-GGT cholestasis and in whom homozygous/ compound heterozygous predictedly pathogenic variants (PPVs) in ATP8B1, ABCB11, NR1H4, MYO5B or TJP2 were not found. Clinical records and findings on light microscopy and transmission electron microscopy of liver biopsy materials were reviewed. Results:In seven patients from seven unrelated families, biallelic PPVs (10 in total) were found in USP53, recently associated with intrahepatic cholestasis. Seven variants were classified as pathogenic: one canonical splicing, c.

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Section: Introductionmentioning

confidence: 99%

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Zhang

Yong

Gong

et al. 2020

Liver International

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“…Infants with cholestasis should be evaluated promptly for potentially life-threatening and treatable causes whereby timing of intervention directly impacts clinical outcomes (7). Results of this study showed that most (60.8%) cholestatic infants had BA and INH.…”

Section: Discussionmentioning

confidence: 80%

Frequency of Different Causes of Infant Cholestasis in a Tertiary Referral Center in South-East Iran

2018

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Objectives: This study reports frequency of different causes of infant cholestasis diagnosed by clinical and biochemical parameters as well as liver biopsy. Methods: Cholestasis persisting beyond two-weeks of age in 46 infants less than 6 months old was evaluated. A checklist including signs and symptoms, as well as laboratory, imaging and liver biopsy results was prepared. According to diagnosis, patients were classified into two groups: biliary atresia (BA) and non-biliary atresia (Non-BA) and results were compared between two groups. P value < 0.05 was considered significant. Results: Forty six infants (25 girls, 21 boys) with cholestasis and mean age of 65 ± 99 days were included in the study. Most of the infants (42%) were referred at the age of > 91 days. The most common symptoms and signs were jaundice in 100% followed by hepatomegaly (78%), splenomegaly (52%), acholic stool (35%) and dark urine (37%). There were no significant differences between the two groups for age, gender, onset of jaundice and organomegaly. Patients in BA group experienced more acholic stool, abnormal AST, ALT and bilirubin (P < 0.05). The most common underlying causes of liver disease in study group were BA (30.4%) and idiopathic neonatal hepatitis (INH) in 30.4% followed by metabolic disorders. Conclusions: Sixty one percent of infants with cholestasis in present study had BA and INH. A systemic approach is the key for rapid diagnosis to rule out BA and other treatable disorders for a better outcome.

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“…O tempo menor de duração da colestase encontrado no estudo de Liu et al 16 pode ser decorrente do fato de ter sido considerado BD alterada > 2mg/dL. É importante ressaltar que o valor de BD como critério diagnóstico diverge na literatura, sendo considerado icterícia colestática BD > 1; 1,5 ou 2 mg/dl, como verificado nos estudos de Lane et al 10 , Albers et al 17 , Satrom et al 18 . O consenso mais recente de colestase elaborado pelas Sociedades Norte Americana e Europeia de Gastroenterologia, Hepatologia e Nutrição Pediátrica (NASPGHAN e ESPGHAN), conceitua colestase como valores de BD maior que 1mg/ dl independente do valor da bilirrubina total 5 .…”

Section: Resultsunclassified

Evolução laboratorial da colestase multifatorial em pacientes pediátricos

Éboli

Duarte

Albuquerque

et al. 2019

Rev. Med. (São Paulo)

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Introdução: No fígado imaturo do recém-nascido (RN) a colestase neonatal pode ocorrer em associação a um ou vários fatores de risco, sem patologia subjacente. Esta condição denomina-se colestase neonatal multifatorial transitória. Prematuridade, restrição de crescimento intra-uterino ou situações que levam a maior estresse oxidativo (isquemia, comprometimento hemodinâmico, infecções, intervenções cirúrgicas, pausa alimentar, alimentação parenteral e fármacos) estão relacionadas com sua gênese. Objetivo: Avaliar a evolução da colestase neonatal multifatorial quanto a sua duração, assim como verificar as alterações médias das enzimas hepáticas, aspartato aminotransferase (AST), alanina aminotransferase (ALT), e canaliculares, gamaglutamiltransferase (GGT), e da bilirrubina direta (BD), comparando ainda a duração da colestase nos pacientes que fizeram uso do ácido ursodesoxicólico (UDCA) com o tempo de evolução dos que não o fizeram, no intuito de caracterizar melhor essa condição clínica e de chamar a atenção do profissional de saúde sobre sua natureza transitória, evitando dessa maneira a solicitação de exames mais específicos, onerosos e desnecessários. Método: Estudo transversal, com 32 pacientes de zero a 90 dias que apresentavam colestase neonatal multifatorial, acompanhados no ambulatório de hepatologia pediátrica do IMIP, no período de agosto de 2016 a agosto de 2017. Os dados foram coletados através de consulta ao prontuário. A análise estatística dos dados foi realizada por meio do software “R” v.3.3.1. Resultados: A maioria dos pacientes era do sexo masculino (59,38%). A idade média de início da colestase foi de 35,5 dias, e a de término de 171,3 dias. A média de duração da colestase foi de 135,8 dias. O valor médio da BD do início e término da colestase foi de 6,05 e 0,29 mg/dL, respectivamente. Com relação às enzimas hepáticas e canaliculares, as médias dos valores de AST, ALT e GGT do início foram 194,7, 123,8 e 387,9 U/L, e de término 69,1, 56 e 121,6 U/L, respectivamente. Apenas 11 pacientes fizeram uso do UDCA. O tempo médio de duração da colestase neste grupo foi de 114,1 dias. Aqueles que não usaram o UDCA, 21 pacientes, apresentaram icterícia colestática por um tempo médio de 147,1 dias. Conclusão: Diante dos resultados obtidos com a análise retrospectiva dos pacientes com diagnóstico de colestase multifatorial, chama a atenção a natureza transitória e benigna desta condição clínica, com duração média da colestase em torno de 136 dias de vida e declínio importante dos níveis das enzimas hepáticas e canaliculares após resolução do quadro

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Neonatal Cholestasis

Cited by 47 publications

References 50 publications

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Frequency of Different Causes of Infant Cholestasis in a Tertiary Referral Center in South-East Iran

Evolução laboratorial da colestase multifatorial em pacientes pediátricos

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