Purpose
To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis in patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).
Methods
WES was performed in 62 families with CAKUT. WES data were analyzed for Single Nucleotide Variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs).
Results
In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. Database of clinical BMGL laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these 8 individuals with FOXP1 SNVs, have syndromic urinary tract defects, implicating this gene in urinary tract development.
Conclusion
We conclude that WES can be used to identify the molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.
In 37% of reported patients orchiectomy was performed because of suspicion that the lesion represented a primary neoplasm. However, orchiectomy is not necessary, since the splenic tissue can be dissected safely off of the tunica albuginea. Therefore, an awareness of the possibility that this anomaly may exist can avoid an unnecessary orchiectomy.
Data suggest that torsion is a time dependent event and factors that delay time to treatment lead to poorer outcomes. These factors include distance from the hospital and the time delay associated with hospital transfer.
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