Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.

A nefrite tubulointersticial está frequentemente associada ao uso de fármacos ou à presença de infeção. Quando há uveíte que precede, acompanha ou surge posteriormente à nefrite, existe confirmação de uma distinta e rara síndrome com envolvimento sistémico. A investigação inicial da síndrome de nefrite intersticial e uveíte inclui a exclusão de outras doenças sistémicas com envolvimento ocular e renal. O diagnóstico baseia-se em achados histopatológicos e clínicos. A própria evolução clínica e o tratamento podem vir a depender de agentes imunomoduladores. Caso: Homem obeso de 24 anos, internado por insuficiência renal rapidamente progressiva, sem nenhum factor precipitante identificado, que respondeu favoravelmente a metilprednisolona endovenosa. A biopsia renal revelou nefrite tubulointersticial aguda. Aquando do desmame da corticoterapia sistémica desenvolveu uveíte

Tubulointerstitial nephritis is commonly related with the use of medication or the presence of infection. When uveitis precedes, follows or simultaneously occurs, a distinct and rare syndrome develops as part of the systemic illness. The initial investigation of tubulointerstitial and uveitis syndrome should exclude other systemic diseases that affect the eye and kidney. The diagnosis must include histopathological and clinical findings. The clinical course and treatment may rely on immunomodulatory agents. Case: 24-year old obese male admitted with rapidly progressive renal insufficiency without any identified precipitant factor that responded well to intravenous metilprednisolone. Renal biopsy revealed acute tubulointerstitial nephritis. Uveitis appeared when systemic steroids were tapered

A hipertensão arterial resistente e uma condição clinica que carece de investigação etiológica, cujo objectivo e identificar causas secundarias passiveis de serem corrigidas. Os autores descrevem uma apresentação rara de hipertensão secundaria. O caso consiste num doente que e seguido em consulta externa desde Janeiro de 2012 por insuficiência renal e hipertensão diagnosticadas ha um ano. Foi realizado um estudo etiológico no qual constou um estudo endocrinológico que demonstrou um hiperaldosteronismo secundário e uma ecografia renal que revelou um rim esquerdo de dimensões reduzidas mas com uma ecografia com Doppler sem alterações do fluxo sanguíneo ao nivel das artérias renais. Posteriormente o doente foi internado no serviço de nefrologia por hipertensão maligna com retinopatia hipertensiva com sinais de hemorragia ao nível da retina. O doente apresentou vários episódios de crises convulsivas tendo sido admitido na Unidade de Cuidados Intensivos onde foi entubado e ventilado. Para exclusão de causas de hipertensão renovascular foi realizado uma tomografia axial computorizada que revelou extenso trombo envolvendo a aorta distal e a artéria renal esquerda. O estudo imunológico realizado demonstrou positividade para os anticorpos anti-fosfolipido, anti-cardiolipina.

Resistant hypertension is a clinical condition that needs an aetiological investigation with the purpose of establishing if there is a secondary cause that can be treated. The authors describe a rare cause of secondary hypertension. We report a case of a 40-year-old Caucasian man followed in an outpatient nephrology clinic, since January 2012, with renal insufficiency and hypertension known for a year. An initial aetiological study was performed, including an endocrinological study, which revealed a secondary hyperaldosteronism, a renal ultrasound that further revealed a diminished left kidney and a renal artery Doppler ultrasound that described a normal arterial blood flow. The patient was admitted in the nephrology department presenting malignant hypertension that included hypertensive retinopathy with retinal haemorrhage. At the time, the patient initiated several convulsive crises and had to be admitted in the intensive care unit, needing invasive mechanical ventilation. To exclude renovascular disease causing the clinical scenario, a computed tomography angiography was performed, showing extensive thrombosis of the distal aorta involving at least the renal left artery. The immunologic study showed positive antiphospholipid antibodies, anticardiolipin antibodies and anti-beta2-glycoprotein 1 antibodies.