Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa

• Tipo: Artigo em Revista Científica Internacional
• Data: 2018

Autores

Silva, ES (Autor) Outra; Klaudel Dreszler, M (Autor) Outra; Bakula, A (Autor) Outra; Oliva, T (Autor) Outra; Sousa, T (Autor) Outra; Fernandes, PC (Autor) Outra; Tylki Szymanska, A (Autor) Outra; Kamenets, E (Autor) Outra; Martins, E (Autor) Outra; Socha, P (Autor) Outra

Revista

Título: Clinics and Research in Hepatology and Gastroenterology

Vol. 42

Páginas: E77-E82

ISSN: 2210-7401

Editora: Elsevier

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 7 Citações

Outras Informações

ID Authenticus: P-00N-YG5

DOI: 10.1016/j.clinre.2018.03.012

Abstract (EN): Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible. The authors suggest that the diagnosis of EO-LAL-D should be considered in infants with symptoms of HLH.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6