Liddle syndrome in a newborn infant

Abstract

A 10-week-old female infant developed hypertension. The elevated blood pressure was associated with metabolic alkalosis and urinary chloride wastage. The family history was unremarkable. Her urinalysis, blood urea nitrogen (BUN), and serum creatinine concentrations were all normal. A renal ultrasound was normal. A technetium-99m diethylenetriaminopentoacetic acid (DTPA) renal scan with captopril showed normal blood flow bilaterally. The head ultrasound and echocardiogram were normal. Blood epinephrine, norepinephrine, catecholamines, thyroxine, and steroid levels were also normal. Treatment with various combinations of labetalol, hydralazine, captopril, methyldopa, nifedipine, and spironolactone, all at high doses, failed to control the elevated blood pressure. Serum aldosterone level and peripheral plasma renin activity were low. The lack of therapeutic response to spironolactone, with a good response to amiloride and recurrence of hypertension and metabolic alkalosis after amiloride cessation that was subsequently treated with amiloride, established the diagnosis of Liddle syndrome. To our knowledge, this is the youngest patient with Liddle syndrome that has been reported in the literature.

Distinction between Liddle syndrome and apparent mineralocorticoid excess

“…Effective treatment in well-documented patients was reported by New et al (12 mg/kg per day) [3,4] and Shackelton et al (1.5 mg/kg per day) [5]. Lack of success was reported by Fiselier et al in a genetically proven case (6 mg/kg per day) [6] and also by Assadi et al (2.5 mg/kg per day) [7]. In adults with severe heart failure 25-50 mg spironolactone was an effective dose [8].…”

A novel epithelial sodium channel ?-subunit mutation associated with hypertensive Liddle syndrome

“…The first description in Afro-American patients included only two adults and no children [20], but the patients did not undergo detailed urinary steroid profiling or confirmatory genetic molecular diagnosis. In a recent report of a newborn black female, urinary steroid profiling and mutational confirmatory studies were not available [21]. The first report describing a non-Caucasian non-Asian child with Liddle syndrome confirmed by mutational analysis described an 11-year-old African-American female [8].…”

Liddle syndrome in a Serbian family and literature review of underlying mutations

“…As a consequence of the high penetrance of this genetic defect and its autosomal dominant transmission, one can usually find the presence of hypertensive individuals in successive generations. The affected individuals are diagnosed at a relatively young age, most often between the ages of 10 and 30 years [47], but diagnosis is sometimes made at an earlier age, including infancy [1,11,43]. These features are clearly different from the more severe and recessively transmitted AME, characterized by early-onset hypertension, polyuria and polydipsia, failure to thrive, profound hypokalemia with metabolic alkalosis accompanied by suppressed PRA, and low-normal or low aldosterone levels but less marked than in Liddle syndrome [26].…”