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

L López de Frutos, J J Cebolla, I de Castro-Orós, P Irún, P Giraldo

Journal: Clinics and research in hepatology and gastroenterology 2022;45(6):101757

PMID: 34303826

Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: 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: [email protected].; 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.; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza 50009, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Instituto Carlos III, IIS Aragón, Zaragoza 50009, Spain.; Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG) Zaragoza 50009, Spain.

DOI: 10.1016/j.clinre.2021.101757

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MeSH Terms: Biomarkers, Child, Preschool, Cholestasis, Humans, Infant, Infant, Newborn, Mass Screening, Niemann-Pick Disease, Type C