RESUMO
BACKGROUND: MPV17-related mitochondrial DNA maintenance defect (MPV17 deficiency) is a rare, autosomal recessive mitochondrial DNA depletion syndrome with a high mortality rate in infancy and early childhood due to progression to liver failure. Liver transplantation for children with MPV17 deficiency has been considered controversial due to uncertainty about the potential progression of extrahepatic manifestations following liver transplantation. METHODS: We describe our institution's experience for two infants diagnosed with infantile MPV17 deficiency who presented in acute on chronic liver failure, but with normal development and normal neurological status who successfully underwent liver transplantation. RESULTS: Both patients underwent successful liver transplantation with normal development and neurological status at 3 years and 16 months post-transplant, respectively. CONCLUSIONS: In this rare disease population, we describe two infants with MPV17 deficiency who underwent liver transplantation for acute on chronic liver failure who continue to have normal development, without progression of neurological disease. MPV17 deficiency should not be considered a contraindication to liver transplantation.
Assuntos
Insuficiência Hepática Crônica Agudizada , Transplante de Fígado , Criança , Pré-Escolar , DNA Mitocondrial/genética , Transtornos Heredodegenerativos do Sistema Nervoso , Humanos , Lactente , Hepatopatias , Proteínas de Membrana/genética , Doenças Mitocondriais , Proteínas Mitocondriais/genética , Doenças do Sistema Nervoso PeriféricoAssuntos
Doença da Deficiência da Carbamoil-Fosfato Sintase I , Hepatite C Crônica , Hepatite C , Transplante de Fígado , Antivirais/uso terapêutico , Doença da Deficiência da Carbamoil-Fosfato Sintase I/tratamento farmacológico , Criança , Quimioterapia Combinada , Hepacivirus , Hepatite C/tratamento farmacológico , Hepatite C Crônica/tratamento farmacológico , Humanos , Lactente , Resultado do TratamentoRESUMO
We conducted a 5-year follow-up systematic review and meta-analysis to determine change in frequency of autism spectrum disorder (ASD) diagnosis since diagnostic and statistical manual 5 (DSM-5) publication and explore the impact of Social Communication Disorder (SCD). For 33 included studies, use of DSM-5 criteria suggests decreases in diagnosis for ASD [20.8% (16.0-26.7), p < 0.001], DSM-IV-TR Autistic Disorder [10.1% (6.2-16.0), p < 0.001], and Asperger's [23.3% (12.9-38.5), p = 0.001]; pervasive developmental disorder-not otherwise specified decrease was not significant [46.1% (34.6-58.0), p = 0.52]. Less than one-third [28.8% (13.9-50.5), p = 0.06] of individuals diagnosed with DSM-IV-TR but not DSM-5 ASD would qualify for SCD. Findings suggest smaller decreases in ASD diagnoses compared to earlier reviews. Future research is needed as concerns remain for impaired individuals without a diagnosis.