RESUMO
INTRODUCTION AND OBJECTIVES: Genetic testing is becoming increasingly important for diagnosis and personalized treatments in aortopathies. Here, we aimed to genetically diagnose a group of acute aortic syndrome (AAS) patients consecutively admitted to an intensive care unit and to explore the clinical usefulness of AAS-associated variants during treatment decision-making and family traceability. METHODS: We applied targeted next-generation sequencing, covering 42 aortic diseases genes in AAS patients with no signs consistent with syndromic conditions. Detected variants were segregated by Sanger sequencing in available family members. Demographic features, risk factors and clinical symptoms were statistically analyzed by Fisher or Fisher-Freeman-Halton Exact tests, to assess their relationship with genetic results. RESULTS: Analysis of next-generation sequencing data in 73 AAS patients led to the detection of 34 heterozygous candidate variants in 14 different genes in 32 patients. Family screening was performed in 31 relatives belonging to 9 families. We found 13 relatives harboring the family variant, of which 10 showed a genotype compatible with the occurrence of AAS. Statistical tests revealed that the factors associated with a positive genetic diagnosis were the absence of hypertension, lower age, family history of AAS and absence of pain. CONCLUSIONS: Our findings broaden the spectrum of the genetic background for AAS. In addition, both index patients and studied relatives benefited from the results obtained, establishing the most appropriate level of surveillance for each group. Finally, this strategy could be reinforced by the use of stastistically significant clinical features as a predictive tool for the hereditary character of AAS. CLINICALTRIALS: gov (Identifier: NCT04751058).
Assuntos
Síndrome Aórtica Aguda , Doenças da Aorta , Dissecção Aórtica , Humanos , Perfil Genético , Doenças da Aorta/diagnóstico , Doenças da Aorta/genética , Testes GenéticosRESUMO
BACKGROUND AND OBJECTIVE: Our objective was to assess the effect of renal revascularization on renal function and blood pressure control. PATIENTS AND METHOD: Retrospective analysis of primary renal revascularization procedures performed during a 6-year period. Parameters of renal function and blood pressure control were assessed before and after the procedure. RESULTS: Forty consecutive renal artery revascularizations were performed in 36 patients (12 aorto-renal bypasses and 28 percutaneous transluminal angioplasties, 4 bilateral). At the first month, the renal function improved in 50% cases, but at the mean follow-up it improved only in 26%. At the first month, blood pressure control improved in 50% patients, but at the mean follow-up, it only improved in 28%. CONCLUSIONS: Renal revascularization does not offer a medium-term benefit in most patients.
Assuntos
Hipertensão Renovascular/cirurgia , Rim/fisiopatologia , Procedimentos Cirúrgicos Vasculares/métodos , Anti-Hipertensivos/uso terapêutico , Pressão Sanguínea/fisiologia , Nitrogênio da Ureia Sanguínea , Creatinina/sangue , Feminino , Taxa de Filtração Glomerular , Humanos , Hipertensão Renovascular/tratamento farmacológico , Testes de Função Renal , Masculino , Pessoa de Meia-Idade , Artéria Renal/patologia , Artéria Renal/cirurgia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
FUNDAMENTO Y OBJETIVO: Conocer el efecto de la revascularización renal sobre el control de la presión arterial y la función renal. PACIENTES Y MÉTODO: Se analizaron retrospectivamente las revascularizaciones renales realizadas durante 6 años. Se valoraron parámetros de función renal y del control de la presión arterial pre y posprocedimiento. RESULTADOS: Se realizaron 40 procedimientos en 36 pacientes (12 derivaciones aortorenales y 28 angioplastias, 4 bilaterales).Al primer mes del seguimiento la función renal mejoró en el 50 por ciento de los casos, pero al final del seguimiento medio sólo mejoró en el 26 por ciento. El control de la presión arterial mejoró al primer mes del tratamiento en el 50 por ciento de los pacientes, pero al final del seguimiento medio sólo mejoró el 28 por ciento. CONCLUSIONES: A medio plazo la revascularización renal no aporta ningún beneficio sobre el control de la presión arterial y de la función renal en la mayoría de los pacientes. (AU)
