Lysosomal acid lipase deficiency in pediatric patients: a scoping review
J. pediatr. (Rio J.)
; 98(1): 4-14, Jan.-Feb. 2022. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1360556
Biblioteca responsable:
BR1.1
ABSTRACT
Abstract Objective:
Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D in pediatric patients through a scope review. Sources Electronic searches in the Embase, PubMed, Livivo, LILACS, Web of Science, Scopus, Google Scholar, Open Gray, and ProQuest Dissertations and Theses databases. The dataset included observational studies with clinical and laboratory characteristics of infants, children and adolescents diagnosed with lysosomal acid lipase deficiency by enzyme activity testing or analysis of mutations in the lysosomal acid lipase gene (LIPA). The reference selection process was performed in two stages. The references were selected by two authors, and the data were extracted in June 2020. Summary of thefindings:
The initial search returned 1593 studies, and the final selection included 108 studies from 30 countries encompassing 206 patients, including individuals with Wolman disease and cholesteryl ester storage disease (CESD). The most prevalent manifestations in both spectra of the disease were hepatomegaly, splenomegaly, anemia, dyslipidemia, and elevated transaminases.Conclusions:
Vomiting, diarrhea, jaundice, and splenomegaly may be correlated, and may serve as a starting point for investigating LAL-D. Familial lymphohistiocytosis should be part of the differential diagnosis with LAL-D, and all patients undergoing upper gastrointestinal endoscopy should be submitted to intestinal biopsy.
Texto completo:
Disponible
Colección:
Bases de datos internacionales
Contexto en salud:
Enfermedades Desatendidas
Problema de salud:
Diarrea
Base de datos:
LILACS
Asunto principal:
Enfermedad de Acumulación de Colesterol Éster
/
Enfermedad de Wolman
Tipo de estudio:
Estudio observacional
/
Estudio de tamizaje
/
Revisión sistemática
Límite:
Adolescente
/
Adulto
/
Niño
/
Humanos
/
Lactante
Idioma:
Inglés
Revista:
J. pediatr. (Rio J.)
Asunto de la revista:
Pediatría
Año:
2022
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal de Santa Catarina/BR