scholarly journals Acute liver failure in a pediatric patient with congenital dyserythropoietic anemia type I treated with deferasirox

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Galina Ling ◽  
Vered Pinsk ◽  
Inbal Golan-Tripto ◽  
Eduard Ling

Congenital dyserythropoietic anemias (CDA) represent a heterogeneous group of disorders characterized by morphological abnormalities of erythroid precursor cells and various degrees of hemolysis. Iron overload is a result of continuous hemolysis and recurrent transfusions. It is treated with iron chelators, including deferasirox. We present here a case of acute liver failure in a 12 years old girl with CDA type I treated with deferasirox and discuss the approach to treatment.

Author(s):  
Patryk Lipiński ◽  
Milena Greczan ◽  
Dorota Piekutowska-Abramczuk ◽  
Elżbieta Jurkiewicz ◽  
Agnieszka Bakuła ◽  
...  

AbstractBiallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neurologic features, including a motor delay, intellectual disability, muscular hypotonia and a mild brain atrophy, have been reported. Here, we describe a case of pediatric patient diagnosed with NBAS deficiency due to a homozygous c.2809C > G, p.(Pro937Ala) variant presenting with RALF with severe hyperammonemia, acquired microcephaly and progressive brain atrophy. Not reported in the literature findings include severe hyperammonemia during ALF episode, and neurologic features in the form of acquired progressive microcephaly with brain atrophy. The latter raises the hypothesis about a primary neurologic phenotype in NBAS deficiency.


2018 ◽  
Vol 40 (4) ◽  
pp. 386-388 ◽  
Author(s):  
Marco Marano ◽  
Jessica Serafinelli ◽  
Sara Cairoli ◽  
Diego Martinelli ◽  
Mara Pisani ◽  
...  

Author(s):  
L.B. ermúdez Barrezueta ◽  
M.B. enito Gutiérrez ◽  
B.M. artínez Rafael ◽  
R.H. erraiz Cristóbal ◽  
A.P. ino Vázquez

2012 ◽  
Vol 50 (08) ◽  
pp. 771-775 ◽  
Author(s):  
A. Kuhn ◽  
C. Weiler-Normann ◽  
C. Schramm ◽  
S. Kluge ◽  
M. Behne ◽  
...  

AbstractWe present the case of a 23-year-old female patient with acute liver failure following intake of minocycline. This patient had severe hypereosinophilia and massively increased IgE levels. Experimental studies in this case revealed elevated IFN-γ-, as well as TNF-α-producing CD4+ and CD8+ T-cells after in vitro stimulation with minocycline, indicating a type I/IgE-mediated as well as type II/cytotoxic reaction in the pathogenesis of minocycline-induced liver failure. Although mild forms of liver involvement are well known side effects of minocycline, only 8 cases with acute liver failure have been reported, and we present a review of all cases.


2019 ◽  
Vol 38 (10) ◽  
pp. 1035-1037 ◽  
Author(s):  
Erica Brivio ◽  
Marta Verna ◽  
Guglielmo Marco Migliorino ◽  
Sergio Foresti ◽  
Nicola Zucchini ◽  
...  

2008 ◽  
Vol 42 (6) ◽  
pp. 662-666 ◽  
Author(s):  
Jason N. Rogart ◽  
Anita Iyer ◽  
Marie E. Robert ◽  
Gillian Levy ◽  
Mario Strazzabosco

2012 ◽  
Vol 94 (10S) ◽  
pp. 597
Author(s):  
I. Malla ◽  
M. Fauda ◽  
A. González Campaña ◽  
A. Siaba ◽  
Y. Cheang ◽  
...  

2011 ◽  
Vol 56 (10) ◽  
pp. 2780-2783
Author(s):  
Jane Whitney ◽  
Melissa Hurwitz ◽  
Amirkaveh Mojtahed ◽  
Christine Hwang ◽  
Amy Gallo

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