[Four cases of aldosterone synthase deficiency in childhood].
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.
Service de pédiatrie, CHU Nord, avenue Albert-Raymond, 42055 Saint-Étienne, France. collinet.elodie@gmail.com
E
E
Collinet
P
P
Pelissier
O
O
Richard
C
C
Gay
M
M
Pugeat
Y
Y
Morel
J-L
JL
Stephan
D000328:Adult; D003241:Consanguinity; D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency / Q000235:genetics; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D004305:Dose-Response Relationship, Drug; D054242:Emigrants and Immigrants; D005260:Female; D005438:Fludrocortisone / Q000008:administration & dosage; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005858:Germany; D006720:Homozygote; D006801:Humans; D006994:Hypoaldosteronism / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D007010:Hyponatremia / Q000175:diagnosis*; D020896:Hypovolemia / Q000175:diagnosis*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011788:Quality of Life; D012982:Sodium, Dietary / Q000008:administration & dosage; D014421:Turkey / Q000208:ethnology
D012982:Sodium, Dietary; D019405:Cytochrome P-450 CYP11B2; D005438:Fludrocortisone