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Browsing PED - Artigos by Author "Abranches, M"
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- Coexistence of Pheochromocytoma and Renal Artery Stenosis in a Pediatric Patient with HypertensionPublication . Serras, I; Baeta Baptista, R; Francisco, T; Casimiro, A; Lito, D; Alves, R; Abranches, MPheochromocytoma and renal artery stenosis are surgically treatable causes of hypertension. Although rare, the coexistence of pheochromocytoma and renal artery stenosis has been described in case reports. Common pathophysiological mechanisms other than extrinsic compression may be involved in this association, such as catecholamine-induced vasospasm. The early recognition of the association of pheochromocytoma with renal artery stenosis is essential for appropriate treatment planning. We present the case of a previously healthy tenyear- old boy who presented with hypertensive encephalopathy, tachycardia and diaphoresis. Hypertension was found to be secondary to a catecholamine-producing tumor associated with coexisting renal artery stenosis. Hypertension resolved a few months after successful pheochromocytoma excision, without renal artery revascularization.
- Imunodeficiência Combinada Severa por Défice da Proteína RAG2Publication . Sequeira, S; Lage, MJ; Abranches, M; Barroco, GO défice da proteína do gene activador da recombinase resulta numa incapacidade de formação de antigénios por deficiente recombinação, o que se traduz por uma ausência quase completa de marcadores T e B nas populações linfocitárias com aumento relativo de marcadores NK. Clínicamente esta alteração revela-se como uma Imunodeficiência Combinada Severa de particular gravidade. Sem a realização precoce de transplante medular de um dador compatível a mortalidade é de 100% aos 2 anos de idade. Descrevemos um caso de um lactente, filho de pais consaguíneos, internado no nosso hospital, aos 6 meses de vida por síndrome hemolítico-urémico na sequência de pneumonia pneumocócica com derrame. Após terapia inyensiva verifica-se recuperação total da função renal mas desnutrição importante. A evolução posterior é caracterizada por infecções recorrentes, escaras cutâneas e agravamento da desnutrição. Laboratorialmente apresenta leucopénia e linfopénia persistente com valores muito baixos das imunoglobulinas séricas e ausência quase total das populações B. O estudo genérico revela existência de um défice proteico do gene activador da recombinase (RAG)2. Foi possível a exclusão da mesma patologia num irmão, nascido posteriormente, por análise do sangue do cordão. Julgamos tratar-se do primeiro caso confirmado desta situação diagnosticada num doente em Portugal.
- Lupus Myelopathy in a ChildPublication . Vieira, JP; Ortet, O; Barata, D; Abranches, M; Gomes, JMA 5-year-old female developed, after a 7-month period of fever, anorexia, weight loss, and a transitory cutaneous erythematous eruption, a severe acute transverse myelopathy, with a partial recovery of motor and sensory function. She had positive antinuclear and antidouble-stranded DNA antibodies but no antiphospholipid antibodies. Six months later she had massive proteinuria and restarted treatment with steroids and cyclophosphamide. Our patient is one of the youngest reported with lupus myelopathy. We discuss the clinical presentation, the magnetic resonance imaging findings, and other relevant laboratory studies of this rare but serious complication of systemic lupus erythematosus.
- Sarcoma de Kaposi Iatrogénico con Afectación Cutánea ExclusivaPublication . Maia, R; Abranches, M; Serrão, AP; Castro, I
- X-linked Hypophosphatemic Rickets: a New MutationPublication . Maio, P; Mano, L; Rocha, S; Baeta Baptista, R; Francisco, T; Sousa, H; Parente Freixo, J; Abranches, MPhosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia, elevated alkaline phosphatase, normal calcium, mildly elevated PTH and normal levels of 25(OH)D and 1.25(OH)D. The radiological study showed bone deformities of the radius and femur. Clinical diagnosis of phosphopenic rickets was made and the genetic study detected a heterozygous likely pathogenic variant of the PHEX gene: c.767_768del (p.Thr256Serfs*7). This variant was not previously described in the literature or databases. Knowledge about new mutations can improve patient's outcome. Genetic analysis can help to establish a genotype-phenotype correlation.