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  • 1
    ISSN: 1432-1076
    Keywords: Key words Gs protein ; GNAS1 deletion ; Hot spot mutation ; Pseudohypoparathyroidism 1a ; Imprinting
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pseudohypoparathyroidism (PHP) type 1a is characterized by multihormone resistance and a constellation of somatic features referred to as Albright hereditary osteodystrophy. Several mutations in the gene coding for the Gsα subunit (GNAS1) have been described. Clinical symptoms are heterogeneous and initially laboratory parameters may be normal. We identified a 4 base pair deletion within GNAS1 in two affected siblings with PHP type 1a and their mother with presumed pseudo PHP. The female proband was diagnosed after an episode of apnoea and seizures. The younger brother was asymptomatic during infancy and had normal plasma parameters. PHP was diagnosed at the age of 4.4 years. Regular check-ups of siblings in families with index cases are therefore important. Molecular genetic analyses or biochemical screening for stimulatory guanine nucleotide binding protein defects should be performed. Conclusion Different symptoms may be seen in patients with the same mutation causing pseudohypoparathyroidism or pseudopseudohypoparathyroidism. Therefore, clinical and biochemical investigations should be performed in all family members with an index patient.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Congenital adrenal hyperplasia ; 21-Hydroxylase deficiency ; Active renin concentration ; Plasma renin activity ; Mineralocorticoid replacement therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In congenital adrenal hyperplasia (CAR) due to 21-hydroxylase deficiency, measurement of plasma renin activity (PRA) has been the method of choice in diagnosing salt loss and in monitoring adequacy of mineralocorticoid replacement therapy. Due to methodological problems in PRA determinations, direct immunoradiometric assays for the measurement of active renin concentration have been developed. We measured PRA and active renin concentrations simultaneously in 39 patients with CAH (30 salt-wasting, 9 simple virilizing) to evaluate the potential role of this new method in the management of this disease. PRA was determined with an enzymatic assay (sample volume: 2 × 1000 μl plasma), active renin concentration with a direct immunoradiometric assay (sample volume: 2 × 200 μl plasma or serum). We found a highly significant correlation between active renin and PRA in our patients (P 〈 0.001), as previously shown in healthy subjects. Active renin was as reliable as PRA to assess the quality of mineralocorticoid replacement.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Congenital adrenal ; hyperplasia ; 21-Hydroxylase ; deficiency ; Active renin concentration ; Plasma renin activity ; Mineralocorticoid replacement therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, measurement of plasma renin activity (PRA) has been the method of choice in diagnosing salt loss and in monitoring adequacy of mineralocorticoid replacement therapy. Due to methodological problems in PRA determinations, direct immunoradiometric assays for the measurement of active renin concentration have been developed. We measured PRA and active renin concentrations simultaneously in 39 patients with CAH (30 salt-wasting, 9 simple virilizing) to evaluate the potential role of this new method in the management of this disease. PRA was determined with an enzymatic assay (sample volume: 2 × 1000 μl plasma), active renin concentration with a direct immunoradiometric assay (sample volume: 2 × 200 μl plasma or serum). We found a highly significant correlation between active renin and PRA in our patients (P 〈 0.001), as previously shown in healthy subjects. Active renin was as reliable as PRA to assess the quality of mineralocorticoid replacement. Conclusion In children, active renin determination is preferable to PRA determination because of methodological advantages and a smaller sample volume. It correlates well with PRA and determines the activation of the renin-angiotensin system as precisely as PRA. Active renin determination is useful in the surveillance of mineralocorticoid replacement therapy in CAH.
    Type of Medium: Electronic Resource
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