Browsing by Author "Cleto, Esmeralda"
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- Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in LipodystrophiesPublication . Ribeiro, A.; Brandão, J.; Cleto, Esmeralda; Santos, M.; Borges, T.; Santos Silva, E.Introduction: Lipodystrophies are a heterogeneous group of rare diseases (genetic or acquired) characterized by a partial or generalized deficit of adipose tissue, resulting in less energy storage capacity. They are associated with severe endocrine-metabolic complications with significant morbidity and mortality. In the pathogenesis of the acquired forms, immunological disorders may be involved. Case 1: A 13-year-old female was diagnosed with acquired generalized lipodystrophy and observed for suspicion of portal hypertension. She presented with generalized absence of adipose tissue, cervical and axillary acanthosis nigricans, and massive hepatosplenomegaly. Laboratory tests revealed AST 116 IU/L, ALT 238 IU/L, GGT 114 IU/L, HOMA-IR 28.2, triglycerides 491 mg/L, and leptin < 0.05 ng/mL. Upper gastrointestinal endoscopy saw no signs of portal hypertension. Hepatic histology showed macrovesicular fatty infiltration (60% of hepatocytes) and advanced fibrosis/cirrhosis. Her clinical condition worsened progressively to diabetes requiring treatment with subcutaneous insulin and hepatopulmonary syndrome. Case 2: A 15-year-old female, diagnosed with acquired partial lipodystrophy, Parkinson syndrome, autoimmune thyroiditis, and autoimmune thrombocytopenia was observed for hypertransaminasemia since the age of 8 years. She had absence of subcutaneous adipose tissue in the upper and lower limbs and ataxia. Laboratory tests showed AST 461 IU/L, ALT 921 IU/L, GGT 145 IU/L, HOMA-IR 32.6, triglycerides 298 mg/dL, normal leptin levels, platelets 84,000/μL, IgG 1,894 mg/dL, positive anti-LKM and anti-LC-1. Hepatic histology was suggestive of autoimmune hepatitis, without steatosis. She progressed favorably under metformin and immunosuppressive treatment. Conclusion: Early recognition and adequate characterization of liver disease in lipodystrophies is essential for a correct treatment approach. In acquired generalized lipodystrophy, the severe endocrine-metabolic disorder, which leads to steatohepatitis with cirrhotic progression, may benefit from recombinant leptin treatment.
- Immune neonatal thrombocytopenia - reviewPublication . Sequeira, Ana Isabel; Rocha, Dalila; Dias, Carla João; Carreira, Luísa; Cleto, EsmeraldaIntroduction: Thrombocytopenia is the most frequent hematological change in the neonatal period, with immune thrombocytopenia as the main cause of moderate-to-severe thrombocytopenia in apparently healthy newborns. Immune thrombocytopenia in the fetus or newborn may result from platelet alloantibodies against paternal antigens inherited by the fetus (alloimmune thrombocytopenia) or platelet autoantibodies due to maternal autoimmune disease (autoimmune thrombocytopenia).Objetives: To review published literature about immune thrombocytopenia in newborns, including the latest advances in pathogenesis, diagnosis, treatment, and prevention.Results: Neonatal alloimmune thrombocytopenia is the most common cause of severe thrombocytopenia and intracranial hemorrhage in term neonates. Clinical presentation varies from mild thrombocytopenia to life-threatening bleeding and death. As maternal screening is not routinely performed, most cases are diagnosed in the first child. Despite intensive research, a consensus strategy for prevention and treatment of the condition is lacking. Diagnosis of neonatal autoimmune thrombocytopenia is usually apparent from maternal medical history and thrombocytopenia. Although maternal immune thrombocytopenic purpura does not carry a high risk of perinatal hemorrhage, it may lead to thrombocytopenia in the newborn, mostly mild-to-moderate. Clinical presentation varies from no symptoms to mucocutaneous signs of thrombocytopenia and may persist for weeks to months requiring long-term monitoring. Conclusions: Fetal and Neonatal alloimmune thrombocytopenia can cause severe disease in the affected fetus or newborn. Facing the lack of routine antenatal screening, the strategies currently proposed for pregnancies at risk. We also discussed the latest research and therapies in development, aiming at potential improvements in diagnosis, treatment, and prevention of this disease. Neonatal autoimmune thrombocytopenia may cause long-lasting low platelet count, that need regular checking.
- Instabilidade cromossómica e imunodeficiência - associação essencial no diagnóstico de Síndrome de NijmegenPublication . Correia, Joana; Pinho, Liliana; Guerra, Isabel Couto; Costa, Emília; Cleto, EsmeraldaIntrodução: O Síndrome de Quebras de Nijmegen (SQN), é uma doença autossómica recessiva rara, pertencente ao grupo dos síndromes de instabilidade cromossómica, sendo mais prevalente na europa central e do leste. Caso clínico: Descreve-se o caso de um rapaz de 14 meses, filho de pais ucranianos, que nasceu pequeno para a idade gestacional, com microcefalia e dismorfias faciais, que se tornaram mais evidentes com o crescimento. O estudo complementar revelou instabilidade cromossómica espontânea e induzida, hemoglobina fetal e α-fetoproteína normais e imunodeficiência celular. Estas características sugeriram o diagnóstico de SQN, confirmado pela identificação da mutação fundadora (657del5) em homozigotia, comum na população eslava. Discussão: O SQN deve ser considerado na presença de microcefalia, características faciais típicas, atraso de crescimento, instabilidade cromossómica e imunodeficiência. O prognóstico é desfavorável pela ocorrência de infeções de repetição e elevada incidência de neoplasias. O seguimento multidisciplinar e a evicção da exposição a radiação ionizante são fundamentais.