Thin Basement Membrane Nephropathy

The Many Faces of Thin Basement Membrane Nephropathy; A Population Based Study

“…In this context, previous morphometric work in our department at the ultrastructural level resulted in establishing the normal adult GBM thickness in our kidney biopsies to be between 300 and 400 nm (Marquez et al, 1999;Marquez et al, 2003). Using the above ''inhouse'' GBM normal range values, our results show that the incidence of TBMN in Cyprus is 5.4%, which is much higher than the 1% usually quoted in the literature (Tryggvason & Patrakka, 2006). However, recent estimates put the incidence of TBMN to be not less than 1% and not greater than 10%.…”

“…TBMN is the commonest cause of recurrent glomerular hematuria that affects both children and adults (Tryggvason & Patrakka, 2006). Although a common nephropathy, the incidence of TBMN is poorly defined and estimates vary widely in the literature from 1% to 9% (Tryggvason & Patrakka, 2006), (Dische et al, 1990).…”

“…Although a common nephropathy, the incidence of TBMN is poorly defined and estimates vary widely in the literature from 1% to 9% (Tryggvason & Patrakka, 2006), (Dische et al, 1990). Using electron microscopy in conjunction with a direct quantitative technique for measuring GBM thickness we recently estimated the incidence of TBMN to be 5.4% in the Cypriot population (Zouvani et al, 2008).…”

“…The extent and severity of glomerulosclerosis seen in each TBMN case is variable and ranges from mild, premature glomerular sclerotic changes, to more advanced stages presenting with glomerulosclerotic lesions that may affect up to 50% of the g lomeruli. Al thoug h as a diagnostic entity TBMN may contain a heterogeneous group of conditions with different aetiologies, molecular genetic studies show that more than 40% of cases are known to be associated with heterozygous mutations in COL4A3 and COL4A4 genes (Tryggvason & Patrakka, 2006) (Lemmink et al, 1996). Recent genetic studies in Cyprus have revealed the presence of founder mutations in the COL4A3 gene in some Cypriot kindrends manifesting TBMN and FSGS (Voskarides et al, 2008).…”

Diagnóstico de infección por VIH por el hallazgo incidental de alteraciones ultraestructurales en una biopsia renal: Report of one case

“…Apoyaban dicha sospecha la ausencia de antecedentes familiares de insuficiencia renal y la presencia de hematuria microscópica persistente en su madre. La EMBD es un trastorno frecuente en la población (5-9%), también llamado "hematuria familiar benigna" y tiene un patrón genético de herencia autosómica dominante 11 . Se caracteriza por la presencia de hematuria microscópica aislada persistente o intermitente.…”