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  • 1
    Electronic Resource
    Electronic Resource
    Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 170-173 
    Details
    ISSN: 1432-1076
    Keywords: Corticosterone methyl oxidase type II ; Failure to thrive ; Salt wasting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127–132 mEq/l) and hyperkalaemia (serum K+ 5.3–5.9 mEq/l). The diagnosis was suggested by an elevated plasma renin activity (PRA): serum aldosterone ratio, and subsequently confirmed by an elevated serum 18-hydroxycorticosterone: aldosterone ratio. Treatment with 9α-fluorohydroxycortisone normalized growth parameters and PRA levels. CMO II deficiency should be considered in infants with recurrent dehydration and failure to thrive, even when serum sodium and potassium levels are not strikingly abnormal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954376
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 835-839 
    Details
    ISSN: 1432-1076
    Keywords: Neurogenic arthrogryposis ; Parenchymal giant cell transformation ; Pigmentary liver disease ; Ductopenia ; Renal tubulopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease. Conclusion We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959793
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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