Voiding urosonography as first step in the diagnosis of vesicoureteral reflux in children: a clinical experience.

BACKGROUND: Contrast-enhanced voiding urosonography (VUS) is becoming more widely used for the diagnosis of vesicoureteric reflux (VUR), but until now its use has only been accepted for first diagnosis in females and in the follow-up of children, including boys, who have already undergone voiding cystourethrography (VCUG). OBJECTIVE: To describe our 6-year experience with VUS used as a first step in the diagnosis of VUR. MATERIALS AND METHODS: A total of 610 children (334 boys, 276 girls; mean age 22 months), underwent VUS as the first step in the diagnosis of VUR. In selected children, VCUG was also performed. RESULTS: VUR was detected in 199 of 610 VUS examinations, and 265 refluxing kidney-ureter units were found. Children with VUR underwent antibiotic prophylaxis or surgery. Children without VUR underwent clinical follow-up. Just 60 children underwent VCUG. The criteria for VCUG were: high-grade VUR after consultation with a urologist, onset of urinary tract infection while receiving prophylaxis, nondiagnostic VUS, and other malformations with or without clinical signs. CONCLUSION: Our experience suggests that we can use VUS as the first step in the diagnosis of VUR in children, boys and girls, with a significant reduction in radiation exposure.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

BACKGROUND: Alport syndrome (ATS) is a progressive inherited nephropathy characterized by irregular thinning, thickening and splitting of the glomerular basement membrane (GBM) often associated with hearing loss and ocular symptoms. ATS has been shown to be caused by COL4A5 mutations in its X-linked form and by COL4A3 and COL4A4 mutations in its autosomal forms. METHODS: Five families with a suspicion of ATS were investigated both from a clinical and molecular point of view. COL4A3 and COL4A4 genes were analysed by DHPLC. Automated sequencing was performed to identify the underlying mutation. RESULTS: Molecular analysis indicated that in all 5 cases the correct diagnosis was autosomal recessive ATS. In three families in which parental consanguinity clearly pinpointed to autosomal recessive ATS, we found COL4A4 homozygous mutations in two of them and COL4A3 homozygous mutation in the other one. In the remaining two families a differential diagnosis including X-linked ATS, autosomal recessive ATS and thin basement membrane nephropathy was considered. The molecular analysis demonstrated that the probands were genetic compounds for two different mutations in the COL4A4 gene pinpointing to the correct diagnosis of autosomal recessive ATS. CONCLUSIONS: A clinical evaluation of probands and their relatives of the five families carrying mutations in either the COL4A3 or the COL4A4 gene was carried out to underline the natural history of the autosomal recessive ATS. In addition, this paper stresses the complexity of the clinics and genetics of ATS and how a correct diagnosis is based on a combination of: (i) an in-depth clinical investigation; (ii) a detailed formal genetic analysis; (iii) a correct technical choice of the gene to be investigated; (iv) a correct technical choice of the family member to be included in the mutational screening. A correct diagnosis is the basis for an appropriate genetic counselling dealing with both the correct prognosis and the accurate recurrence risk for the patients and family members.