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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 14 (2000), S. 36-38 
    ISSN: 1432-198X
    Keywords: Key words Cystinosis ; Cysteamine ; Myopathy ; Electromyography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  In long-standing nephropathic cystinosis complications are observed in various organs. Distal myopathy was first described in detail in 1994. The prevalence was calculated to be 24%. We studied seven patients with nephropathic cystinosis with neurophysiological techniques. Only two patients complained of a distal muscle weakness but all showed signs of myopathy on electromyography, which was more pronounced in the distal muscles. Motor and sensory nerve conduction parameters were within normal ranges. One patient with the juvenile form of nephropathic cystinosis also had myopathy. We conclude that distal myopathy can be detected in nephropathic cystinosis even in the absence of clinically overt muscle weakness. Cystine-depleting therapy with cysteamine is recommended for all patients with cystinosis, even after renal transplantation, and the effect on the myopathy should be studied.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-198X
    Keywords: Key words Tubular amino acid reabsorption ; Renal polyamine excretion ; SLC3A1 mutation analysis ; Genetic localization of non-type I cystinuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport. In the present study phenotypes were assessed by the urinary excretion of amino acids related to creatinine, the percentage tubular amino acid reabsorption and the urinary excretion of polyamines as a possible indicator of the intestinal transport defect. However, our thorough phenotyping did not reveal more than two cystinuria types. Genotypes were examined in linkage analyses and single-strand conformation polymorphism-based mutation identification. The SLC3A1 mutations M467T and T216M were disease causing in our homozygous patients of type I cystinuria. We can show the association of type I cystinuria with SLC3A1 and of non-type I cystinuria with a yet unidentified gene on chromosome 19q13.1. Our phenotype and genotype analyses provide evidence for only two types of cystinuria in the investigated patient cohort.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Kidney transplantation ; Graft survival ; Infant ; Children preschool
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Between 1975 and 1994, 46 children under 6 years of age received a total of 52 renal transplants. Obstructive uropathy and dysplasia accounted for most causes of terminal renal failure (17 and 12 cases respectively). Four patients required a second, 1 patient a third transplantation. Cadaveric organs were used on 33 occasions; 19 patients received a living-related donor kidney. Immunosuppression was performed with azathioprine in 5, with cyclosporine A in 21 and combined azathioprine/cyclosporine therapy in 20 cases. After 1 year, graft survival was 81%, and after 5 years 78%. Creatinine clearance declined slightly between 1 and 5 years from 69 to 56 ml/min per 1.73 m2. Main causes of graft failure were thrombotic complications in 6 cases and death with functioning graft in 5 cases. Graft thrombosis occurred only in grafts from young donors under the age of 7 years and after vascular anastomosis to the iliac vessels. Only two transplants were lost in rejection episodes. Patient survival was 94% after 1 and 90% after 5 years. Two patients died due to septiacemia, 1 died of a ruptured aortic aneurysm, 1 of cerebral ischaemia and 1 suddenly of unknown cause. Patient and graft survival was not different compared with 204 patients aged 6–16 years who received a renal transplantation during the same time period at our institution. After transplantation the patients receiving cyclosporine A showed a marked catch-up growth in the 1st year. The median standard deviation score (SDS) of body length improved from −2.63 to −1.39 standard deviations. Conclusion Renal transplantation is the treatment of choice in end-stage renal failure in children under 6 years.
    Type of Medium: Electronic Resource
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