Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency

作者：Klomchan Tippayakarn; Su****silchai Vichit; Wacharasindhu Suttipong; Shotelersuk Vorasuk; Sahakitrungruang Taninee^*

来源：European Journal of Pediatrics, 2012, 171(10): 1559-1562.

DOI：10.1007/s00431-012-1792-7

• CYP11B2
• P450c11AS
• Aldosterone synthase deficiency
• Mutation
• Novel

Aldosterone synthase (P450c11AS) deficiency is a rare autosomal recessive disorder, presenting with severe salt-losing in early infancy. It is caused by inactivating mutations of the CYP11B2 gene. Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldosterone synthase deficiency and identify their CYP11B2 mutations. Patient 1 was a Thai female infant. Patient 2 was an Indian boy, and patient 3 was a Thai male infant. All subjects presented at the age of 1-2 months with diarrhea, failure to thrive, and severe dehydration. Their plasma electrolytes showed hyponatremia, hyperkalemia, and acidosis. All patients had normal cortisol response and had elevated plasma renin activity with low aldosterone levels. The entire coding regions of the CYP11B2 gene were amplified by polymerase chain reaction and sequenced. Patient 1 was homozygous for a previously described mutation, p.T318M. Patient 2 was homozygous for a novel c.666delC mutation inherited from both parents resulting in p.223F %26gt; Sfsx295. No CYP11B2 mutation was detected in patient 3. Conclusions: We report the first CYP11B2 defects in Southeast Asian families responsible for aldosterone synthase deficiency and identified a novel CYP11B2 mutation. However, the affected gene(s) responsible for primary hypoaldosteronism other than CYP11B2 remain to be determined.

• 出版日期2012-10