Researching Fabry disease in autosomal dominant polycystic kidney disease patients

Autosomal polycystic kidney disease (APKD) is the most common hereditary disease of the kidney. Most important finding is bilateral numerous renal cysts that lead to parenchyma injury. Fabry disease is X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs and in epithelial and smooth muscle cells. Fabry patients have an increased incidince of having renal cysts. While general population have 3-10 % (related to age) of renal cysts, 30-50 % of Fabry patients have renal cysts. Fabry disease and renal cysts is a known phenomenon but it's never studied APKD patients if have Fabry Disease. In this study we want to investigate Fabry disease as a distinguish diagnose in APKD. In this single-center, prospective study included 36 ADPKD patients. All patients diagnosed by family history and radiology techniques. In their usual follow-up we asked to take a 2 cc blood sample to investigate Fabry Disease. Research was made at Intergen Genetik Araştırma Merkezi. While 35 studied patients had no mutations one patient has mutation for Fabry Disease. Our study was restricted by not studying polycystin 1 and polycystin 2 genes and number of patients involved. Both ADPKD and Fabry have left ventirular hypertrophy and renal cycts which can cause diagnosing diffuculties and as Fabry is a rare disease, its treatment approach is completely different from APKD. Keywords: Fabry disease, autosomal dominant polycystic kidney disease, kidney cyst.