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  • 1
    Electronic Resource
    Electronic Resource
    Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 1-7 
    Details
    ISSN: 1432-1076
    Keywords: Key words Osteochondrodysplasia ; Cerebral ischaemia ; Immunologic deficiency syndrome ; Kidney failure ; Hypothyroidism ; Focal glomerulosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. Conclusion Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050001
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  • 2
    Electronic Resource
    Electronic Resource
    Renal Granulomatous sarcoidosis in childhood: a report of 11 cases and a review of the literature (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 154-159 
    Details
    ISSN: 1432-1076
    Keywords: Key words Sarcoidosis ; Child ; Granulomatous interstitial nephropathy ; Renal failure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We analysed retrospectively 11 children with renal granulomatous sarcoidosis confirmed by renal histology in order to describe the course and prognosis of the disease. Symptomatic sarcoidosis was diagnosed at a mean age of 10.1 years. Nine children had renal involvement at the time of diagnosis. In the course of the disease, nine patients developed renal failure and mild proteinuria, seven had transient sterile leucocyturia, four showed microscopic haematuria, seven had a urinary concentrating defect, and enlarged kidneys were seen in three patients. One child had hypercalcaemia and hypercalciuria, none had hypertension. Light microscopy of the kidney showed interstitial infiltration by mononuclear cells in all children, interstitial fibrosis in nine patients, epithelioid granulomas in seven, tubular involvement in eight, and mild glomerular involvement in seven patients. Renal immunofluorescence was negative. Ten children received prednisone for 1–11 years. After a mean follow up of 5.5 years, three patients had entered end-stage renal failure and one had chronic insufficiency after interruption of medical supervision and prednisone therapy. Conclusion Renal failure, proteinuria, leucocyturia, haematuria, and concentration defect are the prominent features of renal granulomatous sarcoidosis in children. Steroid therapy, adjusted according to disease activity, may prevent end-stage renal failure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051038
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  • 3
    Electronic Resource
    Electronic Resource
    Chronic renal failure in children: an epidemiological survey in Lorraine (France) 1975–1990 (1994)
    Springer
    Pediatric nephrology 8 (1994), S. 472-476 
    Details
    ISSN: 1432-198X
    Keywords: Chronic renal failure ; End-stage renal failure ; Epidemiology ; Aetiology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A comprehensive investigation in Lorraine from 1975 to 1990 identified 127 children (73 boys, 54 girls) under 16 years with chronic renal failure (CRF). From 1975–1980 to 1985–1990 the mean annual incidence of pre-terminal CRF decreased from 12.7 to 7.5 per million children under 16 years of age. The incidence of end-stage renal disease (ESRD) in children increased from 5.6 to 7.5 per million with a peak of 9.1. The prevalence of preterminal CRF was variable (29.4–54) and the prevalence of ESRD increased from 15.5 to 37.0 per million children. Acquired nephropathies were observed in 30.7% and congenital nephropathies in 68.5%. Although patients with acquired nephropathies had only slightly higher serum creatinine levels, they progressed more rapidly to ESRD than those with congenital disease: mean 1.8 years versus 3.85 years after diagnosis of pre-terminal of CRF (P〈0.02). Ten years after onset of pre-terminal CRF, 94% with acquired and 69% of those with congenital nephropathies had started renal replacement therapy (P〈0.001). It is unclear whether the decrease in preterminal CRF reflects a reduced number of children with kidney disease reaching CRF or is the result of a real delay in the progression due to better therapeutic management.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00856534
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  • 4
    Electronic Resource
    Electronic Resource
    Acute pancreatitis in six non-transplanted uraemic children (1988)
    Springer
    Pediatric nephrology 2 (1988), S. 431-435 
    Details
    ISSN: 1432-198X
    Keywords: Chronic renal failure ; End-stage kidney disease ; Children ; Pancreatitis ; Haemodialysis ; Peritoneal dialysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ten clinical episodes of acute pancreatitis (AP) occurred in six patients (mean age 10 years, range 3–15 years) with chronic renal failure (CRF) during a 9-year period (1977–1986). The underlying cause of CRF was vesicoureteral reflux (2); urethral valves (1); ureterohydronephrosis (1); nephronopthisis (1) and a haemolytic uraemic syndrome which occurred 12 years before (1). In all patients a diagnosis of AP was established both on clinical grounds and with a serum amylase level of 〉600 IU/1. In 3 patients laparotomy was performed because of suspected appendicitis. All patients required exclusive parentenral feeding (mean duration 25 days) and 2 patients had a partial pancreatectomy. No patient developed pancreatic pseudocysts, 2 patients experienced one relapse (3 and 21 months later) and 1 patient had two relapses and died. Mean duration of follow up was 3 years (range 1–10 years). Possible aetiological factors were: choledochal cyst (1); parotitis without a rise in mumps antibodies (1); familial dyslipidaemia but without AP in other family members (1), and aluminium intoxication with hypercalcaemia and convulsive encephalopathy treated with valproic acid in 1 patient. Severe hyperparathyroidism with radiological signs was absent in all patients. Transplantation had been performed either before AP in 2 patients (1 and 3 years before AP) or had followed AP in 1 patient (7 years after) without occurrence or relapse of AP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00853437
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    Paper (German National Licenses)
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