His genetic analysis revealed 17q12 deletion syndrome, causing the loss of one copy of the <i>HNF1B</i> gene, the <i>AATF,</i> and the <i>LHX1</i> gene.<h4>Conclusion</h4>Autosomal dominant tubulointerstitial kidney diseases are challenging to diagnose due to a lack of typical clinical or histopathological signs as well as an uncharacteristic and versatile clinical presentation. The gene discussed is HNF1B; the disease is autosomal dominant medullary cystic kidney disease with or without hyperuricemia.