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Nephron ; 143(2): 128-132, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31394546

RESUMO

A 31-year-old woman presented at the emergency room after experiencing colic pain in the right iliac fossa for 5 days. She had previously consulted another center, where deterioration of renal function had been identified and abdominal computed tomography (CT) angiography had shown a dissection of the right renal artery, with areas suggestive of infarction in the right kidney, as well as an aneurysm in the left renal artery and a smaller left kidney. The patient had no relevant family or personal history except posttraumatic carotid-cavernous fistula in 2014, which had been treated with embolization. In our hospital, the patient was hypertensive and acute renal failure was confirmed, accompanied by an increase in lactate dehydrogenase and isomorphic microhematuria. After a new CT Scan, in addition to the lesions described in the renal arteries, another aneurysm in the splenic artery and an aneurysm of the right femoral artery were identified. Antihypertensive treatment was initiated with calcium antagonists and anticoagulation. Subsequent renal arteriography confirmed the dissection of the right renal artery, which could not be repaired, and a coated stent was placed in the left renal artery to exclude the aneurysm. The splenic artery lesion was treated 2 months later. The etiological diagnosis in this young woman was challenging. The presence of visceral aneurysms suggested a differential diagnosis comprising fibromuscular dysplasia, vasculitis, and collagenopathies. Using a multidisciplinary approach and directed anamnesis, the presence of frequent sprains, joint hypermobility, and skin fragility was confirmed. Blood immunology and CT angiography including the thoracic and cervical territories were normal. Echocardiography revealed tricuspid insufficiency. All these data suggested the presence of a collagen-like Ehlers-Danlos syndrome (vascular form). The diagnosis was confirmed by the genetic study, which showed a pathogenic mutation in the COL3A1 gene. Currently, the patient is asymptomatic with recovered renal function following treatment with a beta-blocker and antiplatelet therapy.


Assuntos
Dissecção Aórtica/diagnóstico , Síndrome de Ehlers-Danlos/diagnóstico , Displasia Fibromuscular/diagnóstico , Artéria Renal , Adulto , Dissecção Aórtica/diagnóstico por imagem , Dissecção Aórtica/genética , Colágeno Tipo III/genética , Angiografia por Tomografia Computadorizada , Análise Mutacional de DNA , Diagnóstico Diferencial , Síndrome de Ehlers-Danlos/diagnóstico por imagem , Síndrome de Ehlers-Danlos/genética , Feminino , Humanos , Artéria Renal/diagnóstico por imagem
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