Neonatal cholestasis and Niemann-pick type C disease: A literature review.

Autor: López de Frutos L; GIIS-012. Instituto de Investigación Sanitaria Aragón (IIS Aragón), Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza 50009, Spain; Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) Zaragoza 50009, Spain. Electronic address: llopezdefrutos.uit@gmail.com., Cebolla JJ; GIIS-012. Instituto de Investigación Sanitaria Aragón (IIS Aragón), Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza 50009, Spain; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza 50009, Spain., de Castro-Orós I; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza 50009, Spain., Irún P; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto Carlos III, IIS Aragón, Zaragoza 50009, Spain., Giraldo P; Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) Zaragoza 50009, Spain.
Jazyk: angličtina
Zdroj: Clinics and research in hepatology and gastroenterology [Clin Res Hepatol Gastroenterol] 2021 Nov; Vol. 45 (6), pp. 101757. Date of Electronic Publication: 2021 Jul 22.
DOI: 10.1016/j.clinre.2021.101757
Abstrakt: Background: Neonatal cholestasis (NC) is one of the most serious diseases in newborns and infants and results from metabolic disorders, such as Niemann-Pick type C (NPC), among other causes.
Objective: We evaluated the incidence of NPC in our NC plus lysosomal storage disease (LSD) suspicious neonates and infants series.
Methods: The study included children (≤3 years old) with a history of NC together with a suspicion of LSD, referred from Spanish Hospitals during the period 2011-2020. Screening for NPC was done by plasma biomarker assay (chitotriosidase activity and 7-ketocholesterol), and Sanger sequencing for NPC1 and NPC2 genes.
Results: We screened NPC disease in 17 patients with NC plus organomegaly and that were LSD suspicious, finding 5 NPC patients (29.4%) and 2 carriers.
Conclusions: Our results emphasize the need to study NPC when NC and visceral enlargement arise in a newborn or infant.
Competing Interests: Disclosure statement PhD Cebolla and PhD de Castro-Orós are employees of Takeda Pharmaceutical outside the submitted work without stock options. All other authors have indicated they have no financial relationships relevant to this article to disclose.
(Copyright © 2021 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: