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10.1038/sj.ki.5000185

http://scihub22266oqcxt.onion/10.1038/sj.ki.5000185
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suck abstract from ncbi


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pmid16528253
      Kidney+Int 2006 ; 69 (6 ): 1033-40
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  • Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study #MMPMID16528253
  • Izzi C ; Sanna-Cherchi S ; Prati E ; Belleri R ; Remedio A ; Tardanico R ; Foramitti M ; Guerini S ; Viola BF ; Movilli E ; Beerman I ; Lifton R ; Leone L ; Gharavi A ; Scolari F
  • Kidney Int 2006[Mar]; 69 (6 ): 1033-40 PMID16528253 show ga
  • Hereditary factors are suspected to contribute to the pathogenesis of sporadic primary glomerulonephritis, but their contribution is difficult to delineate in the general population. We studied the prevalence of primary glomerulonephritis in an isolated population from the extreme northern Valtrompia valley, Northern Italy. Investigation of medical records, community urinary screening program and molecular characterization of the population's ancestry were performed; genealogies of affected individuals were researched. Forty-three patients with primary glomerulonephritis were identified: 25 had biopsy-proven disease (11 immunoglobulin A (IgA) nephropathy; eight mesangial proliferative glomerulonephritis without IgA deposits; four focal segmental glomerular sclerosis; two membranous nephropathy), and 18 had clinical glomerulonephritis. All 43 patients originated from three mountain villages (Collio, San Colombano, and Bovegno). In contrast, we found only four cases of primary glomerulonephritis in two nearby villages (Pezzaze and Tavernole) that shared similar population histories and lifestyles, demonstrating heterogeneity of risk factors for glomerulonephritis (P=3 x 10(-5)). All 43 affected individuals could be traced back to common ancestors (XVI-XVII centuries), enabling the construction of three large pedigree including three parent-child affected pairs and five affected siblings pairs. Molecular data showed lower genetic diversity and increased inbreeding in the Valtrompia population compared to the control population. Molecular and genealogical evidence of limited set of founders and the absence of shared nephritogenic environmental factors suggest that our patients share a common genetic susceptibility to the development of primary glomerulonephritis. Further molecular study of our families will offer the possibility to shed light on the genetic background underlying these glomerular disorders.
  • |*Social Isolation [MESH]
  • |Adult [MESH]
  • |Aged [MESH]
  • |Female [MESH]
  • |Genetic Predisposition to Disease [MESH]
  • |Genetic Testing [MESH]
  • |Glomerulonephritis/*epidemiology/*genetics [MESH]
  • |Humans [MESH]
  • |Italy/epidemiology [MESH]
  • |Male [MESH]
  • |Middle Aged [MESH]
  • |Pedigree [MESH]


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