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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
    ISSN: 1432-198X
    Keywords: Key words: Renal transplantation   ;   Graft rejection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Infants are thought to be more immunoreactive and at a greater risk for developing irreversible rejection compared with older children. We investigated this by analyzing patient and graft survival rates, incidence of acute rejection, reversibility of acute rejection, development of a subsequent acute rejection, and incidence of graft loss due to rejection in 154 children (〈18 years of age) after primary renal transplantation. Most patients (n = 139) were treated with quadruple immunosuppression (antibody, azathioprine, prednisone, cyclosporine). Treatment of the first acute rejection episode (ARE) consisted of antibody and increased prednisone (68%) or increased prednisone alone (30%), and was not significantly different between the age groups. Transplants were from living donors (LRD) in 80% of cases. Patients were followed for at least 1 year (mean 58±30 months); 68% (105/154) of recipients experienced 1 or more ARE. The incidence of ARE was significantly lower in patients 〈2 years of age (45%) compared with patients 2 – 5 (76%, P = 0.01), 6 – 12 (78%, P = 0.005), and 13 – 17 (76%, P = 0.009) years of age. There was no significant difference in the 1-, 2- and 5-year patient or graft survival rates, the development of a subsequent acute rejection, or the incidence of graft loss due to acute rejection when analyzed by age group. These data suggest that the impact of an ARE is similar for younger and older children in our population receiving predominantly LRD transplants and quadruple immunosuppression.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-198X
    Keywords: Key words: Vancomycin ; Overdose ; Charcoal hemoperfusion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. A 14-month-old girl with chronic renal insufficiency received a massive overdose of vancomycin, resulting in worsened renal failure and ototoxicity. We report the use of combined charcoal hemoperfusion and dialysis to accelerate vancomycin removal in this patient.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 12 (1998), S. 269-274 
    ISSN: 1432-198X
    Keywords: Key words: Alport syndrome ; Renal scarring ; Cortical interstitial volume fraction ; Global glomerular sclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We investigated the onset of renal scarring in 62 males (aged 4 – 26 years) with Alport syndrome by measuring cortical interstitial volume fraction [Vv (interstitium/cortex)] and percentage global glomerular sclerosis in kidney biopsies. Male pediatric (n = 9) and adult (n = 7) donor kidneys served as controls. Creatinine clearance at the time of biopsy was available for 43 Alport patients. A statistically insignificant correlation between age and Vv (interstitium/cortex) was observed in normal subjects (r = +0.47, slope = 0.0009, P = 0.07). In the Alport patients, age was significantly correlated with Vv (interstitium/cortex (r = +0.49, slope = 0.01, P = 0.001) and global glomerular sclerosis (r = +0.41, P = 0.01), and inversely correlated with creatinine clearance (r = –0.33, P = 0.04). Creatinine clearance was inversely correlated with Vv (interstitium/cortex) (r = –0.78, P = 0.001) and global glomerular sclerosis (r = –0.74, P = 0.001). The correlation with creatinine clearance was especially strong for Vv (interstitium/cortex) values above the normal range, i. e., 〉0.2 (r = –0.82, P = 0.001), and was absent for Vv (interstitium/cortex) 〈0.2 (r = –0.119, P = 0.55). Creatinine clearance values less than 80 ml/min per 1.73 m2 occurred more frequently in patients with Vv (interstitium/cortex) values 〉0.2 (P 〈0.0001) and in patients with 〉10% globally sclerosed glomeruli (P 〈0.001). Patients ≤ or 〉10 years of age differed in Vv (interstitium/cortex) [0.13±0.09 (mean ±SD) vs. 0.24±0.026, P 〈0.001], the frequency of Vv (interstitium/cortex) 〉0.2 (3/32 vs. 15/31, P 〈0.0001), the frequency of 〉10% globally sclerosed glomeruli (3/33 vs. 11/30, P 〈0.05), mean creatinine clearance (113±7 vs. 84±10 ml/min per 1.73 m2, P = 0.057), and the frequency of creatinine clearance 〈80 ml/min per 1.73 m2 (1/20 vs. 11/23, P 〈0.01). Thus, reduced creatinine clearance in males with Alport syndrome is associated with Vv (interstitium/cortex) 〉0.2 and 〉10% globally sclerosed glomeruli. These are frequently detectable in the 2nd decade. We hypothesize that most Alport males will require intervention during the 1st decade for optimal preservation of kidney function.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-198X
    Keywords: Renal transplantation ; Recurrent disease ; Rejection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The data base of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS) was used to examine the effect of primary diagnosis on the outcome of renal transplantation in children. The relative risk of graft failure for eight diagnostic groups was determined, with patients with congenital and structural anomalies of the urinary tract serving as the reference group. Covariate analysis was used to control for the effects of age, race and transfusion history in recipients of living-related donor kidneys, and for age, donor age, antilymphocyte prophylaxis, prior transplantation, prior dialysis and cold ischemia time in recipients of cadaver kidneys. In recipients of living-related donor kidneys, the lowest graft failure rates were associated with the diagnoses of cystinosis, familial nephritis and hemolytic uremic syndrome (HUS), while the highest failure rates were observed in patients with a primary diagnosis of congenital nephrotic syndrome (CNS) or focal segmental glomerulosclerosis (FSGS). In cadaver allograft recipients, the lowest graft failure rates were associated with primary diagnoses of glomerulonephritis, congenital/structural disease and cystinosis, while patients with FSGS, HUS and CNS had the highest graft failure rates. This study suggests that patients with a primary diagnosis of cystinosis have superior outcomes, while the diagnoses of FSGS and CNS carry with them the highest risks of graft failure.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-198X
    Keywords: Glomerulonephritis ; Factor H ; Complement ; β-1 H globulin ; Collagen type III glomerulopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A non-immune complex-mediated glomerulonephritis associated with persistent hypocomplementemia occurred in a young boy. Measurement of complement components revealed complete factor H deficiency, inherited as an autosomal recessive trait. Evaluation of the renal lesion revealed extensive deposition of type III collagen suggestive of collagen type III glomerulopathy, a recently identified cause of chronic renal insufficiency in children and adults. This report represents the first association of inherited factor H deficiency with collagen type III glomerulopathy.
    Type of Medium: Electronic Resource
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  • 9
    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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  • 10
    ISSN: 1432-198X
    Keywords: Key words: Pancreas transplantation ; Kidney transplantation ; Hemolytic uremic syndrome ; Diabetes mellitus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Simultaneous pancreas-kidney (SPK) transplantation has rarely been performed in the pediatric population. This report describes successful SPK transplantation in a 12-year-old girl and a 14-year-old boy with renal and pancreatic insufficiency secondary to postdiarrheal hemolytic-uremic syndrome. All reported cases of pediatric SPK transplantation are reviewed. SPK transplantation is a feasible option in selected pediatric patients with combined pancreatic and renal insufficiency.
    Type of Medium: Electronic Resource
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