Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

We present the case of a 41-year-old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD). Genetic testing revealed PKD1 gene intron 11 heterozygous nucleotide variant c.2854-23G>T, but no gene mutation implicated in URA. Just eight cases of ADPKD with one kidney have been recorded globally. PC1 and PC2 disruption, causing primary cilia malformation or absence resulting in relevant in the first embryonic development alteration. Cillia's crucial significance in many diseases will require more research.

Automated summary

This case presents a 41-year-old male patient diagnosed with a solitary left kidney with a few cysts. Genetic testing revealed a heterozygous nucleotide variant in the PKD1 gene, but no gene mutations implicated in unilateral renal agenesis. Global records show only eight cases of autosomal dominant polycystic kidney disease (ADPKD) with one kidney. Further research is needed to understand the crucial significance of cilia in many diseases.