Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans.
Sign Up to like & getrecommendations! Published in 2019 at "Hepatology"
DOI: 10.1002/hep.30982
Abstract: The clinical consequences of defective primary cilium (ciliopathies) are characterized by marked phenotypic and genetic heterogeneity. Although fibrocystic liver disease is an established ciliopathy phenotype, severe neonatal cholestasis is rarely recognized as such. We describe… read more here.
Keywords: severe neonatal; cause; neonatal cholestasis; ttc26 ift56 ... See more keywords
Neonatal cholestasis: development of a diagnostic decision algorithm from multivariate predictive models
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-020-03886-z
Abstract: Despite the recent advances involving molecular studies, the neonatal cholestasis (NC) diagnosis still relays on the expertise of medical teams. Our aim was to develop models of etiological diagnosis and unfavourable prognosis which may support… read more here.
Keywords: diagnosis; neonatal cholestasis; diagnostic decision; cholestasis ... See more keywords
Novel Pathogenic DNAH5 Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Genetics"
DOI: 10.1055/s-0041-1733940
Abstract: The dynein axonemal heavy chain 5 gene codes for a subunit of axonemal dynein necessary for ciliary motor function. Though research has elucidated the consequences of some variants in this gene, it is still unclear… read more here.
Keywords: primary ciliary; neonatal cholestasis; ciliary dyskinesia; heterotaxia neonatal ... See more keywords
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000001730
Abstract: Objectives: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children.… read more here.
Keywords: mass spectrometry; neonatal cholestasis; ctx; genetics ... See more keywords
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
Sign Up to like & getrecommendations! Published in 2020 at "Liver International"
DOI: 10.1111/liv.14642
Abstract: ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis. We describe a group of patients with biallelic ABCB11 variants whose disorder manifested as transient neonatal cholestasis (TNC). read more here.
Keywords: deficiency presenting; neonatal cholestasis; transient neonatal; abcb11 deficiency ... See more keywords
Risk Estimation for Biliary Atresia in Patients with Neonatal Cholestasis: Development and Validation of a Risk Score.
Sign Up to like & getrecommendations! Published in 2018 at "Radiology"
DOI: 10.1148/radiol.2018172390
Abstract: Purpose To develop and validate a scoring system based on clinical and imaging features to predict the risk for biliary atresia in patients with neonatal cholestasis. Materials and Methods Patients with neonatal cholestasis who underwent… read more here.
Keywords: risk; system; neonatal cholestasis; biliary atresia ... See more keywords
A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric and Developmental Pathology"
DOI: 10.1177/1093526620980577
Abstract: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder that typically manifests in young adulthood as jaundice with conjugated hyperbilirubinemia. We report a case presenting as neonatal cholestasis with the unexpected histologic finding of paucity… read more here.
Keywords: bile; dubin johnson; neonatal cholestasis; paucity ... See more keywords
Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pediatrics"
DOI: 10.1186/s12887-020-02201-x
Abstract: Background Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play… read more here.
Keywords: bsep abcb11; neonatal cholestasis; transient neonatal; report ... See more keywords
Initial assessment of the infant with neonatal cholestasis—Is this biliary atresia?
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DOI: 10.1371/journal.pone.0176275
Abstract: Introduction Optimizing outcome in biliary atresia (BA) requires timely diagnosis. Cholestasis is a presenting feature of BA, as well as other diagnoses (Non-BA). Identification of clinical features of neonatal cholestasis that would expedite decisions to… read more here.
Keywords: clinical features; neonatal cholestasis; model; biliary atresia ... See more keywords
Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention.
Sign Up to like & getrecommendations! Published in 2021 at "NeoReviews"
DOI: 10.1542/neo.22-12-e819
Abstract: Cholestatic jaundice is a common presenting feature of hepatobiliary and/or metabolic dysfunction in the newborn and young infant. Timely detection of cholestasis, followed by rapid step-wise evaluation to determine the etiology, is crucial to identify… read more here.
Keywords: cholestasis; therapeutics prevention; diagnostics therapeutics; neonatal cholestasis ... See more keywords
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2020.616582
Abstract: Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gene… read more here.
Keywords: neonatal cholestasis; hydroxylase deficiency; sterol hydroxylase;