Prescription of drugs blocking the renin-angiotensin system in Italian children.

Little is known about the prescription pattern of antihypertensive drugs for children with impaired kidney function. We have therefore documented the use of antihypertensive drugs in this patient group by evaluating the Italian pediatric population-based registry of patients with chronic kidney disease on conservative treatment (ItalKid) from 1995 to 2003. In 1995, prescriptions written for antihypertensive drugs for use by children were approximately equally divided among drugs blocking the renin-angiotensin system and calcium channel blockers (38 vs.

A particular phenotype in a girl with aldosterone synthase deficiency.

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.

Voiding cystourethrosonography for the diagnosis of vesicoureteral reflux in a developing country.

The primary causes of renal insufficiency in Albanian children are reflux nephropathy and obstructive uropathies. The poor availability and technical quality of conventional radiological imaging in detecting vesicoureteral reflux (VUR) and lower urinary tract obstruction stimulated this pilot study, with the aim of evaluating the diagnostic efficacy of voiding cystourethrosonography (CUS). The study included 34 patients (aged 0.

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons.

Role of ultrasound in the imaging of posterior urethral valves.

The intrinsic abnormalities of male urethra causing urinary obstruction are frequently responsible for renal insufficiency, sometimes present at birth. The rare but typical malformations such as the posterior urethral valves represent major deviations from the normal embryonic development, and require prompt identification and surgical correction. Since the symptoms and signs that suggest the presence of abnormalities of the urinary tract are sometimes vague and nonspecific, in the majority of cases voiding cystourethrography (VCUG) performed in children depicts a normal urethra.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Unlabelled: COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.

Background: Mutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS). Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH).