In this article, we discuss the differential diagnosis of cystic kidney diseases based on a case of oro-facio-digital syndrome type 1. Establishing the correct diagnosis requires a multidisciplinary approach that includes clinical, radiologic, and genetic evaluations to better understand the prognosis, renal and extra-renal management, and specific genetic implications of each disease. Our case illustrates the importance of a detailed personal and family history taking and the significant diagnostic input provided by new genetic sequencing techniques.
Keywords
OFD1, ADPKD, inherited kidney disease, ciliopathy