No abstract

The proposed grading classification system will require extensive evaluation to assess its utility in predicting clinical outcomes. Currently, the grading system is correlated with the risk of postnatal uropathies. Future research will help to further refine the classification system to one that correlates with other clinical outcomes such as the need for surgical intervention or renal function.

The findings of this meta-analysis can potentially be used for prenatal counseling and may alter current postnatal management of children with antenatal hydronephrosis. Overall, children with any degree of antenatal hydronephrosis are at greater risk of postnatal pathology as compared with the normal population. Moderate and severe antenatal hydronephrosis have a significant risk of postnatal pathology, indicating that comprehensive postnatal diagnostic management should be performed. Mild antenatal hydronephrosis may carry a risk for postnatal pathology, but additional prospective studies are needed to determine the optimal management of these children. A well-defined prospective analysis is needed to further define the risk of pathology and the appropriate management protocols.

Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed.

This scoring system can potentially diagnose or rule out testicular torsion in 80% of cases, with high positive and negative predictive values for selected cutoffs. Ultrasound orders would be decreased to 20% of acute scrotum cases. Prospective validation of this scoring system is necessary.