RESUMO
INTRODUCTION: Alpha-1 antitrypsin deficiency (AATD) is a risk factor for liver disease. PASD-positive inclusions have been found unexpectedly in approximately 10% of liver explants in patients with no previous diagnosis of AATD, particularly, in patients with non-alcoholic steatohepatitis (NASH), supporting a synergistic mechanism of liver injury between AATD and environmental factors. We aimed to determine the clinical characteristics of mestizo patients in which AATD was diagnosed before or after liver transplantation. METHODS: Liver explants of patients with cryptogenic, alcoholic, and NAFLD/NASH cirrhosis undergoing orthotopic liver transplantation (OLT) were included. Liver histopathology was assessed by two expert pathologists. Hematoxylin and eosin staining, PASD staining, and confirmatory AAT immunohistochemistry were performed. In explants with positive histopathology, genotyping for SERPINA1 was performed. RESULTS: A total of 180 liver transplants were performed during the study period. Of these, 44 patients with cryptogenic cirrhosis, NASH, and alcoholic cirrhosis were included. Of these patients, two liver explants (4.5%) had PASD-positive inclusions stain and confirmatory immunochemistry. During the period evaluated, another two patients with a diagnosis of AATD before the OLT were also included. The four patients had overweight or obesity, three had type 2 diabetes mellitus, and two developed liver steatosis after the OLT. CONCLUSION: AATD was found to be an infrequent finding in patients with cryptogenic, NASH/NAFLD, and alcoholic cirrhosis in our population. However, it is important to consider this entity as it may represent an additional factor in the appearance and progression of liver fibrosis in patients with metabolic syndrome.
Assuntos
Diabetes Mellitus Tipo 2 , Hepatopatia Gordurosa não Alcoólica , Deficiência de alfa 1-Antitripsina , Humanos , Cirrose Hepática , Cirrose Hepática Alcoólica , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Prevalência , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/diagnóstico , Deficiência de alfa 1-Antitripsina/epidemiologiaAssuntos
Humanos , Feminino , Idoso , Antivirais/uso terapêutico , Inibidores de Proteases/uso terapêutico , Carbamatos/uso terapêutico , Hepatite C/tratamento farmacológico , Sofosbuvir/uso terapêutico , Compostos Heterocíclicos de 4 ou mais Anéis/uso terapêutico , Esquema de Medicação , Carga Viral , Ciclopropanos , Quimioterapia Combinada , Ácidos AminoisobutíricosAssuntos
Antivirais/uso terapêutico , Carbamatos/uso terapêutico , Hepatite C/tratamento farmacológico , Compostos Heterocíclicos de 4 ou mais Anéis/uso terapêutico , Inibidores de Proteases/uso terapêutico , Sofosbuvir/uso terapêutico , Viremia/tratamento farmacológico , Idoso , Ácidos Aminoisobutíricos , Antivirais/administração & dosagem , Antivirais/economia , Benzimidazóis/administração & dosagem , Benzimidazóis/uso terapêutico , Carbamatos/administração & dosagem , Ciclopropanos , Esquema de Medicação , Quimioterapia Combinada , Feminino , Genótipo , Hepacivirus/efeitos dos fármacos , Hepacivirus/genética , Compostos Heterocíclicos de 4 ou mais Anéis/administração & dosagem , Humanos , Lactamas Macrocíclicas , Leucina/análogos & derivados , Compostos Macrocíclicos/administração & dosagem , Compostos Macrocíclicos/uso terapêutico , Prolina/análogos & derivados , Inibidores de Proteases/administração & dosagem , Saúde Pública/economia , Pirrolidinas , Quinoxalinas/administração & dosagem , Quinoxalinas/uso terapêutico , Sofosbuvir/administração & dosagem , Sulfonamidas/administração & dosagem , Sulfonamidas/uso terapêutico , Carga ViralRESUMO
BACKGROUND: Moebius syndrome (MBS) is an infrequent disease, having an incidence of 1 in 10,000 births, mainly characterized by a congenital bilateral facial paralysis due to an agenesia of the sixth and seventh cranial nerves. In addition, orofacial and limb anomalies are frequently found in these patients. The diagnosis is fundamentally based on different clinical manifestations of the disorder. CLINICAL CASE: a female newborn with the clinical picture of Moebius syndrome is presented, and genetic or environmental aspects are discussed. Since the use of misoprostol for abortion and inducing uterine activity in combination with NSAIDs, the number of newborns with MBS associated with this drug has increased. Nowadays, either genetic or environmental factors are associated with MBS. CONCLUSIONS: it is necessary that the general and medical community be aware of the risk of teratogenic effects of misoprostol, and the usefulness of genetic counseling whenever there is a newborn with Moebius syndrome.
Introducción: el síndrome de Moebius (MBS) es una enfermedad poco frecuente que tiene una incidencia de 1 por cada 10 000 nacimientos. Se caracteriza principalmente por parálisis facial bilateral congénita debido a una agenesia de los núcleos de los nervios craneales del VI y VII par. Además, es frecuente encontrar anomalías orofaciales y de extremidades torácicas y pélvicas en estos pacientes. El diagnóstico se basa fundamentalmente en las distintas manifestaciones clínicas del trastorno. Caso clínico: niña recién nacida con el cuadro clínico de síndrome de Moebius. Se discuten los aspectos genéticos y medioambientales asociados a esta patología. Desde la introducción del misoprostol y su uso inadecuado como agente abortivo e inductor de actividad uterina, y en combinación con antiinflamatorios no esteroideos, se ha observado un incremento en la frecuencia de recién nacidos con síndrome de Moebius asociados al uso de este medicamento. Actualmente, el factor genético y el medioambiental se encuentran asociados a este síndrome. Conclusiones: es importante alertar a la comunidad médica y a la población en general acerca del riesgo teratogénico del misoprostol y de la importancia del consejo de los genetistas cuando nace un paciente con síndrome de Moebius.