Béatrice Mougenot

TL;DR: The hallmark of membranous glomerulonephritis, a major primary nephropathy, is the presence of immune deposits on the outer aspect of the glomerular basement membrane.

TL;DR: The case of a patient who had Fanconi syndrome, nephrogenic diabetes insipidus, and acute renal failure during treatment with tenofovir, a nucleotide reverse transcriptase inhibitor that recently has been approved by the Food and Drug Administration for treatment of patients infected with human immunodeficiency virus is reported.

TL;DR: COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps, as well as three closely located glycine mutations in exons 24 and 25 of the gene COL4A2, which encodes procollagen type IV alpha1.

TL;DR: This study points to a mutation clustering in exon 4 of UMOD as a major genetic defect in FJHN, which may critically affect the function of uromodulin, resulting in abnormal accumulation within tubular cells and reduced urinary excretion.

TL;DR: Genetic and biochemical analyses of the light chains showed a striking homogeneity, which indicates that FS light chains are related by the sequence of their variable regions and Resistance of V kappa to proteolysis in FS patients can explain the accumulation of a light chain in the endocytotic compartment of the proximaltubule cells, leading to impairment of proximal tubule functions.