Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.

Background: Alport syndrome (AS) is a common and heterogeneous genetic kidney disease, that often leads to end-stage kidney disease (ESKD).

Methods: This is a single-center, retrospective study that included 36 adults with type IV collagen (COL4) mutations. Our main scope was to describe how genetic features influence renal survival.

Histological reappraisal of IgA nephropathy: the role of glomerular pattern of injury and mesangial complement deposition.

Background: There is a clear need to refine the histological assessment in IgA Nephropathy (IgAN). We sought to investigate the clinical significance of the light microscopy (LM) pattern of glomerular injury and of the intensity of mesangial C3 staining in IgAN.

Methods: We conducted a retrospective, observational study that included all patients with biopsy-proven primary IgAN that had at least 12 months of follow-up.

Primary desminopathies.

Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Skeletal and cardiac muscle from patients with primary desminopathies characteristically display cytoplasmic accumulation of desmin-immunoreactive material and myofibrillar changes. However, desmin-positive protein aggregates in conjunction with myofibrillar abnormalities are also the morphological hallmark of the large group of secondary desminopathies (synonyms: myofibrillar myopathies, desmin-related myopathies), which comprise sporadic and familial neuromuscular conditions of considerable clinical and genetic heterogeneity.

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing numerous proteins, foremost desmin, as did cardiac biopsy tissue.