Ana Cabrita

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.

Goodpasture's disease is a rare autoimmune disorder characterised by the development of antiglomerular basement membrane autoantibodies, which typically presents with rapidly progressive crescentic glomerulonephritis and pulmonary haemorrhage. Even with aggressive nonspecific immunosuppression and plasma exchange, mortality remains high. We report a case of life-threatening Goodpasture's disease with relapsing pulmonary haemorrhage refractory to conventional therapy. Second line treatment was based on mycophenolate mofetil 1 g every 12 hours and prednisolone 60 mg/day. In this case, the use of a low-dose mycophenolate mofetil regimen turned out to be insufficient. However, in our opinion higher mycophenolate mofetil doses should be considered an alternative treatment, mainly in relapsing disease, due to its mechanism of action and current insufficient therapeutic weapons.

Obesity represents an important risk factor for the development of chronic kidney disease (CKD), due to its known strong association with diabetes mellitus and hypertension, the two major causes of CKD, but also as an independent renal risk factor. This direct relationship between obesity and kidney injury has been undervalued. The aim of this revisión is to point out the mechanisms of kidney injury induced by obesity, underline the importance of this association and alert for the prevention, education and treatment of the obese patient, as a way to control this heavy modifiable risk factor.