Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature.
Alpha-1 antitrypsin deficiency
Case report
Cystic fibrosis
Infant liver transplant
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
03 05 2022
03 05 2022
Historique:
received:
29
09
2021
accepted:
19
04
2022
entrez:
3
5
2022
pubmed:
4
5
2022
medline:
6
5
2022
Statut:
epublish
Résumé
This case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal recessive inherited diseases, mainly affecting the lungs and the liver. The combination of both diseases together is rare and may lead to a fulminant disease with limited life span. To the best of our knowledge, no case has been reported of a patient born with both diseases. After an uneventful pregnancy, a male baby was born with meconium ileus. The suspected diagnosis of CF was confirmed based on the sweat test and genetic analysis. The child developed persisting cholestasis, too severe to be likely caused by CF alone and indicating an associated problem. The diagnosis of A1ATD was established based on clinical suspicion (persisting cholestasis), decreased serum alpha-1 antitrypsin and genetic analysis. Supportive therapy was started, however the boy evolved to rapidly progressive liver disease leading to liver failure which necessitated an infant liver transplantation. This case illustrates the complexity of care in case of two severe inherited diseases as well as post solid organ transplant care.
Sections du résumé
BACKGROUND
This case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal recessive inherited diseases, mainly affecting the lungs and the liver. The combination of both diseases together is rare and may lead to a fulminant disease with limited life span. To the best of our knowledge, no case has been reported of a patient born with both diseases.
CASE PRESENTATION
After an uneventful pregnancy, a male baby was born with meconium ileus. The suspected diagnosis of CF was confirmed based on the sweat test and genetic analysis. The child developed persisting cholestasis, too severe to be likely caused by CF alone and indicating an associated problem. The diagnosis of A1ATD was established based on clinical suspicion (persisting cholestasis), decreased serum alpha-1 antitrypsin and genetic analysis. Supportive therapy was started, however the boy evolved to rapidly progressive liver disease leading to liver failure which necessitated an infant liver transplantation.
CONCLUSIONS
This case illustrates the complexity of care in case of two severe inherited diseases as well as post solid organ transplant care.
Identifiants
pubmed: 35505316
doi: 10.1186/s12887-022-03290-6
pii: 10.1186/s12887-022-03290-6
pmc: PMC9063355
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
247Informations de copyright
© 2022. The Author(s).
Références
Pulmonology. 2018 Dec;24 Suppl 1:1-21
pubmed: 30473034
Cell Mol Life Sci. 2017 Jan;74(1):129-140
pubmed: 27709245
J Cyst Fibros. 2009 Dec;8(6):392-9
pubmed: 19733131
J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):443-448
pubmed: 28753176
Ann Am Thorac Soc. 2016 Apr;13 Suppl 2:S191-6
pubmed: 27115956