Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report

Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis. The authors report a case of inherited protein S deficiency associated with vascular access thrombotic events. DNA sequence analysis of the PROS1 gene identified a novel heterozygous nonsense mutation in exon 10 by transition of AAG (lysine) to TAG (stop codon) at codon 473 (c.1417A>T, p.K473X). Results from the study suggest that the inherited protein S deficiency due to a PROS1 gene mutation may cause vascular access thrombosis in hemodialysis patients.

Proliferative Glomerulopathy with Unusual Subendothelial Deposits of Striated Structure in Multiple Myeloma / 대한신장학회지

A 50-year-old woman was admitted for the evaluation of proteinuria and renal biopsy. On the basis of the serum monoclonal protein, marrow plasma cell dyscrasia and end organ damage (nephrotic range proteinuria), multiple myeloma was diagnosed. A renal biopsy showed a membranoproliferative glomerulonephritis pattern of injury and unusual organized deposits of striated structure in the subendothelial space, which were identified as non-amyloid non-immunoglobulin-derived deposits. These deposits contained regularly stacked straight electron-dense bands, which have not been described in the setting of paraproteinemia and/or plasma cell dyscrasia.