Salt-losing syndrome in 2 infants with defective 18-dehydrogenation in aldosterone biosynthesis.

Milla, Peter J.; Trompeter, Richard S.; Dillon, Michael J.; Robins, Diane M.; Shackleton, Cedric

doi:10.1136/adc.52.7.580

Cited by 18 publications

(2 citation statements)

References 24 publications

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“…As noted previously by Rappaport et al (1968) and Milla et al (1977), the clinical course of this patient illustra¬ tes also that the disease appears to be transient.…”

Section: Discussionmentioning

confidence: 68%

“…Both types of deficiencies are clinically characterized by salt wasting, dehydration and failure to thrive. They usually become manifest in the neonatal period (Visser & Cost 1964;Ulick et al 1964;Rappaport et al 1968;David et al 1968;Jean et al 1969;Hamilton et al 1976;Rosier et al 1977a,b;Milla et al 1977;Ravussin et al 1977;Velthuis et al 1980). Until recently the diagnosis has been based on steroid analysis of the urine.…”

mentioning

confidence: 96%

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The effect of ACTH stimulation on plasma steroids in two patients with congenital hypoaldosteronism and in their relatives

Drop¹,

Frohn-Mulder²,

Visser³

et al. 1982

Acta Endocrinologica

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In two children with isolated congential hyperreninaemic hypoaldosteronism, as well as in their relatives, plasma levels of aldosterone (Aldo), corticosterone (B), deoxycorticosterone (DOC), 18-OH-B and 18\ x=r eq-\ OH-DOC were measured before and after an iv bolus of 0.25 mg Synacthen\s=r\(Ciba). A corticosterone methyl oxidase deficiency type II was demonstrated in one child. Her normoreninaemic parents (no consanguinity) had plasma values consistent with heterozygosity. The results in the other child and one asymptomatic sib were compatible with a partial corticosterone methyl oxidase deficiency type I. His parents were consanguine but had normal Aldo levels. Overnight dexamethasone administration did not suppress any of the steroids measured except cortisol, suggesting synthesis of these steroids by the zona glomerulosa.The final steps in the biosynthesis of aldosterone (the conversion of corticosterone to aldosterone) presumably involve two sequential hydroxylations of the angular methyl group at position C 18, followed by a spontaneous dehydration to form an aldehyde (Ulick 1976). Two types of congenital hypoaldosteronism on the basis of an inborn error in the biosynthesis of aldosterone have been postu¬ lated: corticosterone methyl oxidase deficiency type I, characterized by overproduction of corti¬ costerone and deoxycorticosterone, and cortico¬ sterone methyl oxidase deficiency type II, asso¬ ciated with overproduction of 18-hydroxycorticosterone and corticosterone (Ulick 1976). Both

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“…As noted previously by Rappaport et al (1968) and Milla et al (1977), the clinical course of this patient illustra¬ tes also that the disease appears to be transient.…”

Section: Discussionmentioning

confidence: 68%

mentioning

confidence: 96%

The effect of ACTH stimulation on plasma steroids in two patients with congenital hypoaldosteronism and in their relatives

Drop¹,

Frohn-Mulder²,

Visser³

et al. 1982

Acta Endocrinologica

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Renin-angiotensin-aldosterone system

Dillon

1980

Eur J Clin Pharmacol

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There is increased activity of the renin, angiotensin, aldosterone (RAA) system in infancy and childhood. An inverse relationship between plasma renin, aldosterone and age has been demonstrated. In childhood hypertension due to renovascular disease or pyelonephritic scarring peripheral plasma renin is increased. Renal vein renin measurements in children with renal hypertension have proved valuable in predicting surgical curability of the underlying lesion. The upper limit of normal for the renal venous renin ratio in normotensive children without renal disease is 1.5. Pharmacological blockade of the RAA system has a place in diagnosis and treatment of hypertensive children. The plasma renin aldosterone profile is diagnostically useful in the investigation of salt-wasting disease and can easily distinguish between aldosterone biosynthetic defects and pseudohypoaldosteronism.

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Urinary metabolites of 18-hydroxylated corticosteroids: Microbial preparation of reference compounds

Shackleton

Honour²,

Winter

et al. 1979

Journal of Steroid Biochemistry

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Salt-losing syndrome in 2 infants with defective 18-dehydrogenation in aldosterone biosynthesis.

Cited by 18 publications

References 24 publications

The effect of ACTH stimulation on plasma steroids in two patients with congenital hypoaldosteronism and in their relatives

The effect of ACTH stimulation on plasma steroids in two patients with congenital hypoaldosteronism and in their relatives

Renin-angiotensin-aldosterone system

Urinary metabolites of 18-hydroxylated corticosteroids: Microbial preparation of reference compounds

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