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  • 1
    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
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric nephrology 6 (1992), S. 559-561 
    ISSN: 1432-198X
    Keywords: Alagille syndrome ; Arteriohepatic dysplasia ; IgA nephritis ; Liver transplantation ; Cyclosporine A
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Alagille syndrome (arteriohepatic dysplasia) is a major cause of intrahepatic cholestasis in infancy. The present report describes a patient with Alagille syndrome who presented with hematuria and IgA nephritis 7 years after an orthotopic liver transplantation and immunosuppression. This patient suggests that glomerular lipidosis is not an inherent feature of the Alagille syndrome, and that IgA nephritis may develop in spite of ongoing immunosuppressive treatment.
    Type of Medium: Electronic Resource
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