Cargando…
Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency
BACKGROUND: Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course. METHODS: This study enrolled ASMD patients diagnosed by genetic tests betwee...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088046/ https://www.ncbi.nlm.nih.gov/pubmed/35534800 http://dx.doi.org/10.1186/s12876-022-02310-0 |
_version_ | 1784704286031085568 |
---|---|
author | Wang, Neng-Li Lin, Jing Chen, Lian Lu, Yi Xie, Xin-Bao Abuduxikuer, Kuerbanjiang Wang, Jian-She |
author_facet | Wang, Neng-Li Lin, Jing Chen, Lian Lu, Yi Xie, Xin-Bao Abuduxikuer, Kuerbanjiang Wang, Jian-She |
author_sort | Wang, Neng-Li |
collection | PubMed |
description | BACKGROUND: Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course. METHODS: This study enrolled ASMD patients diagnosed by genetic tests between July 2016 and December 2020 in a national pediatric liver center. The significance of low High-density lipoprotein cholesterol (HDL-C) for aid diagnosis of ASMD in infancy was explored by reviewing 160 consecutive infants with liver manifestations, who underwent both genetic tests and lipid profile studies, between January 2020 and December 2020. RESULTS: A total of 7 patients were diagnosed as ASMD, and 10 known disease-causing variants were identified. Hepatosplenomegaly, elevated transaminases, and liver foam cells were observed in all the 7 patients at age ranging from 4 to 31 months. Low HDL-C was detected in 5 patients, cherry red spot in 4 patients, development delay in 3 patients, and interstitial lung diseases in 1 patient. Three ASMD patients developed cholestasis around 1 month of age, and bilirubin levels normalized at age ranging from 3 to 10 months. They had persistently elevated transaminases and hepatosplenomegaly, and died within 4 years of age. Among the 160 infants with liver manifestations, 125 (78.1%) had low HDL-C. Fifty-four had both low HDL-C and splenomegaly, including 48 cholestatic infants, but only 1 (1.9%, 1/54) infant without cholestasis was diagnosed as ASMD. CONCLUSIONS: ASMD can manifest as neonatal cholestasis in the early disease course. Cholestasis is a pitfall when low HDL-C is used for aid diagnosis of ASMD in infants with splenomegaly. |
format | Online Article Text |
id | pubmed-9088046 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-90880462022-05-11 Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency Wang, Neng-Li Lin, Jing Chen, Lian Lu, Yi Xie, Xin-Bao Abuduxikuer, Kuerbanjiang Wang, Jian-She BMC Gastroenterol Research BACKGROUND: Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course. METHODS: This study enrolled ASMD patients diagnosed by genetic tests between July 2016 and December 2020 in a national pediatric liver center. The significance of low High-density lipoprotein cholesterol (HDL-C) for aid diagnosis of ASMD in infancy was explored by reviewing 160 consecutive infants with liver manifestations, who underwent both genetic tests and lipid profile studies, between January 2020 and December 2020. RESULTS: A total of 7 patients were diagnosed as ASMD, and 10 known disease-causing variants were identified. Hepatosplenomegaly, elevated transaminases, and liver foam cells were observed in all the 7 patients at age ranging from 4 to 31 months. Low HDL-C was detected in 5 patients, cherry red spot in 4 patients, development delay in 3 patients, and interstitial lung diseases in 1 patient. Three ASMD patients developed cholestasis around 1 month of age, and bilirubin levels normalized at age ranging from 3 to 10 months. They had persistently elevated transaminases and hepatosplenomegaly, and died within 4 years of age. Among the 160 infants with liver manifestations, 125 (78.1%) had low HDL-C. Fifty-four had both low HDL-C and splenomegaly, including 48 cholestatic infants, but only 1 (1.9%, 1/54) infant without cholestasis was diagnosed as ASMD. CONCLUSIONS: ASMD can manifest as neonatal cholestasis in the early disease course. Cholestasis is a pitfall when low HDL-C is used for aid diagnosis of ASMD in infants with splenomegaly. BioMed Central 2022-05-09 /pmc/articles/PMC9088046/ /pubmed/35534800 http://dx.doi.org/10.1186/s12876-022-02310-0 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Wang, Neng-Li Lin, Jing Chen, Lian Lu, Yi Xie, Xin-Bao Abuduxikuer, Kuerbanjiang Wang, Jian-She Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
title | Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
title_full | Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
title_fullStr | Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
title_full_unstemmed | Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
title_short | Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
title_sort | neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9088046/ https://www.ncbi.nlm.nih.gov/pubmed/35534800 http://dx.doi.org/10.1186/s12876-022-02310-0 |
work_keys_str_mv | AT wangnengli neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency AT linjing neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency AT chenlian neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency AT luyi neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency AT xiexinbao neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency AT abuduxikuerkuerbanjiang neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency AT wangjianshe neonatalcholestasisisanearlylivermanifestationofchildrenwithacidsphingomyelinasedeficiency |