RESUMEN
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.
Asunto(s)
Insuficiencia Hepática Crónica Agudizada , Trasplante de Hígado , Niño , Preescolar , ADN Mitocondrial/genética , Trastornos Heredodegenerativos del Sistema Nervioso , Humanos , Lactante , Hepatopatías , Proteínas de la Membrana/genética , Enfermedades Mitocondriales , Proteínas Mitocondriales/genética , Enfermedades del Sistema Nervioso PeriféricoAsunto(s)
Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I , Hepatitis C Crónica , Hepatitis C , Trasplante de Hígado , Antivirales/uso terapéutico , Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I/tratamiento farmacológico , Niño , Quimioterapia Combinada , Hepacivirus , Hepatitis C/tratamiento farmacológico , Hepatitis C Crónica/tratamiento farmacológico , Humanos , Lactante , Resultado del TratamientoRESUMEN
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.
