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  • 1
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as responsible for aBS has resulted in new insights into renal salt handling, diuretic action and ...
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 2
    ISSN: 1546-1718
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Medizin
    Notizen: [Auszug] Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that ...
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric nephrology 12 (1998), S. 14-15 
    ISSN: 1432-198X
    Schlagwort(e): Key words: Neutropenia ; Granulocyte colony-stimulating factor ; Renal transplant
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract. We report the use of granulocyte colony-stimulating factor (G-CSF) in a renal transplant recipient in whom neutropenia developed following a presumed viral infection. G-CSF was successful in producing a rise in neutrophil count which coincided with a resolution of fever; there was no adverse effect on renal function. This is the first use of G-CSF in a paediatric renal transplant recipient, and its use should be considered for the immunosuppressed child with persistent neutropenia.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric nephrology 7 (1993), S. 256-258 
    ISSN: 1432-198X
    Schlagwort(e): Malakoplakia ; Renal insufficiency ; Immunosuppression
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Malakoplakia is an inflammatory condition associated with persisting bacterial antigen in macrophages and characterised histologically by the Michaelis-Gutmann body, containing bacterial fragments. We review the pathogenesis of malakoplakia and report a novel form of treatment successfully used in an 8-week-old infant with bilateral renal malakoplakia. The patient presented with an acuteEscherichia coli urinary tract infection and enlarged kidneys. Antibiotic regimes were ineffective, but once the diagnosis was made treatment was changed to an immunosuppressive regime of prednisolone and azathioprine, to which she responded promptly. Renal malakoplakia should be considered in any patient with a urinary tract infection unresponsive to antibiotics and enlarged kidneys. Although a large proportion of patients with malakoplakia have an underlying systemic disorder, which may account for their abnormal macrophage function, the rest demonstrate either an isolated macrophage defect or no detectable anomaly at all. It is in this latter group we suggest that an immunomodulating regime can be curative.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 5
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric nephrology 7 (1993), S. 771-772 
    ISSN: 1432-198X
    Schlagwort(e): Escherichia coli 0157 colitis ; Identical twins ; Differing outcomes
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 6
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric nephrology 9 (1995), S. 33-35 
    ISSN: 1432-198X
    Schlagwort(e): Amyloidosis ; Subacute bacterial endocarditis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Survival of patients with increasingly complex congenital heart disease has produced a population of children and adolescents who are susceptible to subactue bacterial endocarditis (SBE). We report a child whose endocarditis went unrecognised, and who developed amyloidosis. Asymptomatic proteinuria, haematuria and renal impairment are occasionally seen in SBE and usually indicate glomerulonephritis. Amyloidosis should also be suspected in children with long-standing bacterial endocarditis with proteinuria or other evidence of renal impairment, especially if associated with organomegaly. The diagnosis is made by renal biopsy.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 7
    ISSN: 1432-198X
    Schlagwort(e): Cystinosis ; Nephrocalcinosis ; Hypercalciuria
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We noted microscopic haematuria in children with cystinosis. To investigate this we studied urinary calcium excretion and undertook renal ultrasound scans. Most patients had elevated urinary calcium excretion and all had abnormal appearances on ultrasound scan, ranging from increased cortical echogenicity only to those with increased cortical and medullary echogenicity. The ultrasound scan appearance was graded and correlated with laboratory parameters. It remains unclear as to the aetiology of the ultrasound findings and whether they are a consequence of treatment or a hitherto unrecognised feature of the disease.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 8
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric nephrology 9 (1995), S. 574-578 
    ISSN: 1432-198X
    Schlagwort(e): Haemolytic uraemic syndrome ; Endothelium ; Soluble vascular cell adhesion molecule-1 ; Soluble intercellular adhesion molecule-1
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Plasma concentrations of soluble vascular cell adhesion molecule-1 (sVCAM-1), E-selectin (sE-selectin) and intercellular adhesion molecule-1 (sICAM-1) were measured by enzyme-linked immunosorbent assay in four groups of children. Group 1 consisted of 20 patients with acute diarrhoea-associated haemolytic uraemic syndrome (D+HUS), the aetiology of HUS being verocytotoxin-producingEscherichia coli infection in each case. Controls consisted of 11 patients who had previously had D+HUS (group 2), 12 with chronic renal failure (group 3) and 8 healthy controls (group 4). When compared with healthy controls, the acute D+HUS group had higher sVCAM-1 (median 1,875 ng/ml, range 1,200–6,450 ng/ml vs. 1,200 ng/ml, range 975–2,125 ng/ml), von Willebrand factor antigen, (1.9 U/ml, range 0.85–5.1 U/ml vs. 0.55 U/ml, range 0.3–1.57 U/ml), white cell count (WBC, 14.5×109/l, range 7.8–43.1 109/l vs. 8.9 109/l, range 5.7–10.8 109/l) and neutrophil count (PMN, 10.1×109/l, range 4.3–26.5 109/l vs. 4.3 109/l, range 3.7–6.6 109/l), allP〈0.005, and sICAM-1 was reduced (230 ng/ml, range 130–340 ng/ml vs. 400 ng/ml, range 260–690 ng/ml),P〈0.05. Within the acute D+HUS group there was a significant correlation between sICAM-1 and PMN (r=0.56,P〈0.01). There was no correlation between any adhesion molecule and plasma creatinine or von Willebrand factor. Comparing the acute HUS group with children with chronic renal failure, WBC (P〈0.001), PMN (P〈0.01) and sVCAM-1 (P〈0.01) were significantly elevated, but there was no difference between the von Willebrand factor (P=0.08) or the sICAM-1 (P〉0.1). sVCAM-1 is elevated and sICAM-1 decreased in acute D+HUS. This pattern of altered adhesion molecule concentration is unlike that in adults with vasculitis and suggests that different endothelial regulatory factors are at play.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 9
    Digitale Medien
    Digitale Medien
    Springer
    Pediatric nephrology 12 (1998), S. 386-391 
    ISSN: 1432-198X
    Schlagwort(e): Key words: Haematuria ; Renal biopsy ; Hilar vasculopathy
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract. We reviewed the clinical and renal biopsy findings in 322 children presenting during the years 1975–1996 with recurrent macro- or continuous microscopic haematuria persisting for ≥6 months, in whom non-glomerular causes were excluded. Family involvement was documented for first-degree relatives. All biopsies were examined by light microscopy, 317 by electron microscopy and 315 by immunofluorescence. Biopsies were classified as IgA nephropathy (78), Alport nephropathy (86), thin basement membrane nephropathy (TMN) (50), miscellaneous glomerulonephritis (32), hilar vasculopathy (28) and normal glomeruli (48). Although microscopic haematuria alone was more frequent in Alport nephropathy and TMN, the pattern of haematuria in individual patients did not predict histology. Of patients with familial haematuria, 79% of biopsies showed either Alport nephropathy or TMN. Hilar vasculopathy was observed both in isolation and in all abnormal histological categories.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 10
    ISSN: 1432-198X
    Schlagwort(e): Blood group P1 ; Haemolytic uraemic syndrome ; Verotoxin
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Blood group P1 expression was scored by direct agglutination in 32 patients who had previously developed post-enteropathic haemolytic uraemic syndrome (HUS). Sixty-six children of similar ages undergoing venepuncture for other renal disorders acted as controls. The expression of P1 in controls was that expected from the normal caucasian population, 23% being negative. By contrast, there was an excess of HUS patients with weak or absent expression of P1 (χ2 for linear trend 5.45,P〈0.02), and this was particularly evident in those with a poor outcome. Verotoxin (VT), which is associated with HUS, requires the terminal disaccharide of the P1 antigen to bind to cells, and after internalization disrupts the transcription of ribonucleic acid. Mature erythrocytes do not synthesize protein and may be toxin resistant. We postulate that strong expression of P1 antigen may promote the binding of VT to red cells and thus reduce the dose to vulnerable nucleated cleated endothelial cells. P1 positivity may be protective, and P1 negativity a risk factor in HUS.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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