titoli, abstracts, parole chiave >>>
A particular phenotype in a girl with aldosterone synthase deficiency

Williams, Tracy A. and Mulatero, Paolo and Bosio, Maurizio and Lewicka, Sabina and Palermo, Mario and Veglio, Franco and Armanini, Decio (2004) A particular phenotype in a girl with aldosterone synthase deficiency. The Journal of Clinical Endocrinology & Metabolism, Vol. 89 (7), p. 3168-3172. eISSN 1945-7197. Article.

Full text not available from this repository.

Alternative URLs:

Abstract

Aldosterone synthase deficiency (ASD) usually presents in infancy as a life-threatening electrolyte imbalance. A 4-wk-old child of unrelated parents was examined for failure to thrive and salt-wasting. Notable laboratory findings were hyperkalemia, high plasma renin, and low-normal aldosterone levels. Urinary metabolite ratios of corticosterone/18-hydroxycorticosterone and 18-hydroxycorticosterone/aldosterone were intermediate between ASD type I and type II. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (P450c11AS), revealed that the patient was a compound heterozygote carrying a previously described mutation located in exon 4 causing a premature stop codon (E255X) and a further, novel mutation in exon 5 that also causes a premature stop codon (Q272X). The patient’s unaffected father was a heterozygous carrier of the E255X mutation, whereas the unaffected mother was a heterozygous carrier of the Q272X mutation. Therefore, the patient’s CYP11B2 encodes two truncated forms of aldosterone synthase predicted to be inactive because they lack critical active site residues as well as the heme-binding site. This case of ASD is of particular interest because despite the apparent lack of aldosterone synthase activity, the patient displays low-normal aldosterone levels, thus raising the question of its source.

Item Type:Article
ID Code:2709
Status:Published
Refereed:Yes
Uncontrolled Keywords:ASD, electrolyte imbalance, endocrinology
Subjects:Area 06 - Scienze mediche > MED/13 Endocrinologia
Divisions:001 Università di Sassari > 03 Istituti > Clinica medica generale e terapia medica
Publisher:The Endocrine Society
eISSN:1945-7197
Additional Information:Paper presented at: Neuroendocrine-Immune Interactions: EuroConference on Cytokines in the Brain: Expression and Action of Cytokines in the Brain and Pathophysiological Implications, Giens, France, 8–13 October 2004.
Deposited On:18 Aug 2009 10:08

I documenti depositati in UnissResearch sono protetti dalle leggi che regolano il diritto d'autore

Repository Staff Only: item control page