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Archives de pédiatrie
Volume 19, n° 11
pages 1191-1195 (novembre 2012)
Doi : 10.1016/j.arcped.2012.08.018
Received : 4 April 2012 ;  accepted : 17 August 2012
Déficit en aldostérone-synthase : 4 observations pédiatriques
Four cases of aldosterone synthase deficiency in childhood
 

E. Collinet a, , P. Pelissier a, O. Richard a, C. Gay a, M. Pugeat b, Y. Morel c, J.-L. Stephan a
a Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France 
b Service d’endocrinologie, maladies métaboliques, diabète, nutrition, hôpitaux Est, 59, boulevard Pinel, 69677 Bron cedex, France 
c Service de biochimie endocrinienne et moléculaire, centre de biologie et pathologie Est, 59, boulevard Pinel, 69677 Bron cedex, France 

Auteur correspondant.
Résumé

Le déficit en aldostérone-synthase est l’une des causes rares des syndromes néonatals de perte de sel après avoir éliminé la classique hyperplasie congénitale des surrénales par déficit en 21-hydroxylase. Nous rapportons 2 observations de cette maladie pour rappeler les signes cliniques et les grands principes d’une prise en charge adaptée précoce, et le devenir de 2 autres patients jumeaux parvenus à l’âge adulte. La physiopathologie de cette enzymopathie sera abordée brièvement à la lumière de la littérature.

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Summary

Neonatal salt-wasting syndromes are rare but potentially serious conditions. Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types I and II. In type I, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type II, a residual activity of aldosterone synthase persists and 18 OHB is overproduced. We report on four patients with isolated hypoaldosteronism. In 2 of them, who were recently diagnosed with aldosterone synthase deficit, we discuss the symptoms and treatment. The 2 other patients are now adults. We discuss the long-term outcome, the quality of adult life, aldosterone synthase deficits, as well as the pathophysiology and molecular analysis.

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