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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To refine the genetic and physical mapping of the locus for Alport syndrome (ATS), 22 X-chromosome restriction fragment length polymorphism (RFLP) markers that fall between Xq21.3 and Xq25 were tested for genetic linkage with the disease and also mapped with respect to a series of physical breakpoints in this region. The location of the COL4A5 gene, which has recently been shown to be mutated in at least some families with Alport syndrome, was determined with respect to the same physical breakpoints. Two large Utah kindreds were included in the genetic studies, kindreds P and C, with 125 and 63 potentially informative meioses, respectively. Both kindreds have essentially identical nephritis; however, kindred P has sensorineural hearing loss associated with the nephritis, while kindred C does not. A mutation in COL4A5 has been demonstrated for kindred P, but no change in this gene has yet been detected for kindred C. Twelve informative probes did not recombine with the disease locus in either kindred (θ= 0.0, with combined lod scores for the two kindreds ranging from 7.7 to 30.0). The closest markers that could be demonstrated to flank the disease locus were the same for each kindred and thus the locations of the mutations causing the two disease phenotypes are not distinguishable at the current level of genetic resolution. The flanking markers are also useful for the resolution of questionable diagnoses and allow accurate estimates for these families of the rate of sporadic hematuria in noncarrier females (7%) and the penetrance of hematuria for carrier females (93%).
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 4 (1990), S. 523-532 
    ISSN: 1432-198X
    Keywords: Alport syndrome ; Hereditary nephritis ; Basement membranes ; Collagen IV ; X-linkage ; Post-transplant anti-glomerular basement membrane nephritis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Alport syndrome, an inherited disorder of the kidney, eye and ear, has fascinated nephrologists, pathologists, and geneticists for nearly a century. With the recent application of molecular biochemical and genetic techniques, this mysterious disease has begun to yield some of its secrets. Alport syndrome can now be viewed as a generalized disorder of basement membranes that appears to result from mutations in an X-chromosome-encoded basement membrane collagen chain. This chain, along with two other novel collagen chains, is absent from Alport basement membranes, in contrast to the classical chains of collagen IV. Phenotypic heterogeneity in Alport syndrome probably arises from allelic mutations at a single genetic locus. The phenomenon of post-transplant anti-glomerular basement membrane nephritis may be a manifestation of specific mutations at the Alport locus that prevent synthesis of the gene's protein product and the establishment of immunological tolerance.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 7 (1993), S. 721-724 
    ISSN: 1432-198X
    Keywords: VATER ; Imperforate anus ; End-stage renal disease ; Kidney transplant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Genitourinary malformations are frequently associated with imperforate anus, and death from renal failure is reported in up to 6% of children with supralevator imperforate anus. In recent years, advances in renal transplantation and the management of end-stage renal disease (ESRD) have extended these therapies to infants in the first 2 years of life. In infants with imperforate anus and ESRD, it is unclear if the additional burdens of the anorectal malformation and its staged repair contraindicate dialysis and transplantation. This report describes our experience with three such infants and outlines an approach to their care, addressing the following key issues: the initial surgical management of the imperforate anus, the careful search for associated urinary tract and other malformations, the ESRD management, and the appropriate timing of the staged bowel reconstruction and renal transplantation. These cases confirm that such children may be successfully managed by dialysis and renal transplantation co-ordinated with bowel reconstruction; however, there remain the longterm risks of immunosuppression, bladder and bowel dysfunction, and associated congenital anomalies.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 4 (1990), S. 248-248 
    ISSN: 1432-198X
    Keywords: Alport's syndrome ; Liver donor transplant
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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