Jean-Baptiste Philit

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BACKGROUND The number of proteins with mutations resulting in amyloidosis has continued to increase. Five proteins--transthyretin, fibrinogen alpha-A chain, apolipoprotein AI, lysozyme, apolipoprotein AII, cystatin C and gelsolin--can be associated with hereditary amyloidosis involving the kidney. METHODS A French family with a history of autosomal(More)
We report a renal artery thrombosis in a 42-year-old man. Fasting homocysteinemia was at 23 micromol/l 3 months later and at 33 pmol/l 5 months after the vascular event. A homozygous C677T MTHFR was found with low folate status. Active smoking may also have contributed to the pathogenesis of renal arterial thrombosis. The other causes of thrombophilia were(More)
The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical databases. The clinical, enzymatic, and genetic data were(More)
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