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1.
PLoS One ; 15(4): e0232216, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32348326

RESUMO

BACKGROUND: The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease. METHODS: Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4. RESULTS: Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease. CONCLUSIONS: Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.


Assuntos
Hipertensão Pulmonar Primária Familiar/genética , Variação Genética , Proteínas com Domínio T/genética , Adolescente , Adulto , Criança , Pré-Escolar , Códon sem Sentido , Diagnóstico Diferencial , Hipertensão Pulmonar Primária Familiar/diagnóstico , Hipertensão Pulmonar Primária Familiar/diagnóstico por imagem , Feminino , Deleção de Genes , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Prognóstico , Pneumopatia Veno-Oclusiva/diagnóstico , Pneumopatia Veno-Oclusiva/genética
2.
Liver Int ; 40(3): 638-645, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31912956

RESUMO

BACKGROUND AND AIMS: Protein-losing enteropathy (PLE) after Fontan surgery carries significant morbimortality. Its pathophysiology and association with other Fontan complications are poorly understood. Our aims were to examine whether Fontan-PLE is associated with greater liver damage and to assess the presence of systemic and intestinal inflammation. METHODS: Fontan patients with PLE and Fontan controls without PLE matched for age and Fontan surgery procedure were included. Data were prospectively compiled on blood and stool tests, liver imaging, elastography, cardiac-MRI and cardiac catheterization. RESULTS: Twenty-nine Fontan patients were enrolled (14 with PLE and 15 controls without PLE). Patients with PLE had more advanced liver disease estimated by non-invasive methods: blunt liver margins on ultrasonography (71.4% vs 26.7%, P = .027), greater median liver stiffness (25.4 vs 14.5 kPa, P = .003) and higher FIB-4 (P = .016). Portal hypertension-related signs were more common in patients with PLE including ascites (P = .035), larger spleen size (P = .005), oesophageal varices/splanchnic collateral shunts (P = .03), higher liver stiffness-spleen size-to-platelet ratio risk score (P < .001) and lower platelet count (P = .01). Systemic proinflammatory cytokines (TNF-α, interleukin-6), biomarkers of intestinal permeability (intestinal fatty-acid binding protein) and faecal calprotectin concentrations were also significantly increased in Fontan-PLE (P < .05). Faecal calprotectin directly correlated with alpha-1 antitrypsin clearance and inversely with cardiac index, total serum proteins and body mass index. CONCLUSION: Fontan-PLE is associated with advanced liver disease and increased markers of systemic inflammation and intestinal permeability. Faecal calprotectin is elevated and correlates with Fontan-PLE severity. Liver assessment is mandatory in all Fontan patients, and especially in those with PLE.


Assuntos
Técnica de Fontan , Hepatopatias , Enteropatias Perdedoras de Proteínas , Técnica de Fontan/efeitos adversos , Humanos , Hepatopatias/etiologia , Enteropatias Perdedoras de Proteínas/etiologia , Ultrassonografia
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