Neonatal cholestasis and Niemann-pick type C disease: A literature review - 11/11/21
, J.J. Cebolla a, c, I. de Castro-Orós c, P. Irún d, P. Giraldo bBienvenue sur EM-consulte, la référence des professionnels de santé.
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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.
Le texte complet de cet article est disponible en PDF.Highlights |
• | What is already known on this subject?. |
• | Neonatal cholestasis is one of the earliest symptoms of NPC disease. |
• | Neonatal cholestasis-related NPC cases show a higher presence of missense variants. |
• | Despite NPC being the most common lysosomal storage diseases reported in patients with neonatal cholestasis, other sphingolipidoses and mucopolysaccharidoses have also been reported. |
• | What are the new findings?. |
• | An extensive review of NPC and neonatal cholestasis. |
• | A high proportion (29%) of patients with NPC may present with neonatal cholestasis and visceral enlargement plus lysosomal storage diseases suspicious. |
• | No correlation between any genetic variant in NPC1 among patients with NPC presenting with neonatal cholestasis. |
• | High correlation between biomarkers and NPC in pediatric population. |
• | How might it impact clinical practice in the foreseeable future?. |
• | This study highlights that neonatal cholestasis is strongly associated with NPC, mostly in neonatal patients who usually present severe forms of the disease, which makes early diagnosis crucial. |
Keywords : Neonatal cholestasis (NC), Organomegaly, Niemann-Pick type C (NPC)
Abbreviations : NPC, LSD, NC, ChT, 7-KC, ASMD
Plan
| Suggested reviewers: 1. M Terese Vanier: INSERM Unit 820, Faculté de Médecine RTH Laennec, Lyon, France. vaniermtv@gmail.com 2. Jackie Imrie: Niemann-Pick UK, Washington, UK. jackie@niemann-pick.org.uk 3. Eugen Mengel: Villa Metabolica, University of Mainz, Mainz, Germany. mengel@kinder.klinik.uni-mainz.de |
Vol 45 - N° 6
Article 101757- novembre 2021 Retour au numéro
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