Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls | Zendy

Patryk Lipiński | Zendy; Dorota Jurkiewicz | Zendy; Elżbieta Ciara | Zendy; Rafał Płoski | Zendy; Sabina Więcek | Zendy; Anna Bogdańska | Zendy; Teresa Joanna Stradomska | Zendy; Piotr Socha | Zendy; Dariusz Rokicki | Zendy; Anna TylkiSzymańska | Zendy; Irena Jankowska | Zendy

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Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

Author(s) -

Patryk Lipiński,

Dorota Jurkiewicz,

Elżbieta Ciara,

Rafał Płoski,

Sabina Więcek,

Anna Bogdańska,

Teresa Joanna Stradomska,

Piotr Socha,

Dariusz Rokicki,

Anna TylkiSzymańska,

Irena Jankowska

Publication year - 2020

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2020_5202

Subject(s) - medicine , cholestasis , failure to thrive , hypoalbuminemia , jaundice , neonatal cholestasis , gastroenterology , exome sequencing , pediatrics , citrullinemia , citrulline , biliary atresia , liver transplantation , arginine , biochemistry , chemistry , gene , transplantation , mutation , amino acid

Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.

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