3 niðurstöður
Corticosterone methyloxidase type I (CMO-I) deficiency is an autosomal recessively inherited disorder causing congenital hypoaldosteronism due to defects in aldosterone synthase (P450aldo), the enzyme that converts 11-deoxycorticosterone to corticosterone, 18-hydroxycorticosterone, and aldosterone.
Angiotensin II is dipsogenic, and vasopressin (ADH) regulates renal water excretion. Together, these hormones govern overall mammalian water balance. The Brattleboro rat with inherited diabetes insipidus (DI) lacks ADH and is therefore a convenient model with which to elucidate mechanisms regulating
BACKGROUND
Three siblings of Pakistani origin presented neonatally with isolated hyperreninemic hypoaldosteronism and were well controlled on fludrocortisone therapy during childhood and adolescence.
OBJECTIVE
These individuals were reevaluated as adults after fludrocortisone withdrawal to