Copy Number Variation in Congenital Kidney Malformations

We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.]]>
The inclusion criteria consisted of the presence of a primary defect of the renal parenchyma, such as renal agenesis, a congenital solitary kidney and/or renal agenesis or renal hypodysplasia (finding of small or cystic kidney for age), documented by pre- or post-natal imaging studies, such as ultrasound, CT-scan or renal isotopic scan.]]>