Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.

OBJECTIVES: Fabry's disease is an X-linked inherited, rare, progressive, lysosomal storage disorder, affecting multiple organs due to the deficient activity of α-galactosidase A (α-Gal A) enzyme. The prevalence has been reported to be 0.15-1% in hemodialysis patients; however, the information on the prevalence in chronic kidney disease not on dialysis is lacking. This study aimed to determine the prevalence of Fabry's disease in chronic kidney disease. METHODS: The patients older than 18 years, enclosing KDIGO 2012 chronic kidney disease definitions, not on dialysis, were enrolled. Dried blood spots on Guthrie papers were used to analyze α-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity ≤1.2 µmol/L/h. RESULTS: A total of 1453 chronic kidney disease patients not on dialysis from seven clinics in Turkey were screened. The mean age of the study population was 59.3 ± 15.9 years. 45.6% of patients were female. The creatinine clearance of 77.3% of patients was below 60 mL/min/1.73 m2, 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' α-Gal A enzyme was detected as 2.93 ± 1.92 µmol/L/h. 152 patients had low levels of α-Gal A enzyme activity (≤1.2 µmol/L/h). In mutation analysis, A143T and D313Y variants were disclosed in three male patients. The prevalence of Fabry's disease in chronic kidney disease not on dialysis was found to be 0.2% (0.4% in male, 0.0% in female). CONCLUSION: Fabry's disease should be considered in the differential diagnosis of chronic kidney disease with unknown etiology even in the absence of symptoms and signs suggestive of Fabry's disease.

Bilateral renal infarctions complicating fibromuscular dysplasia of renal arteries in a young male.

Fibromuscular dysplasia (FMD) is an uncommon disorder, accounting for less than 10% of cases of renal artery stenosis, and typically presenting with hypertension in young women. This article reports the case of a previously healthy 37-year-old man presenting with acute-onset, severe, bilateral flank pain. Initially treated for ureteral colic and urinary tract infection, he was transferred to the nephrology clinic upon recognition of a rising serum creatinine. He was found to have FMD of bilateral renal arteries with a stenotic pattern on the right side and a dissecting aneurysm on the left side with resultant infarctions in both kidneys. On the basis of negative serological markers of vasculitis, a diagnosis of FMD complicated by bilateral renal infarctions was made. A stent was placed to the right stenotic renal artery, which resulted in sufficient lumen patency. No invasive procedure was performed on the other side owing to the complexity of the lesion. After 2.5 years of follow-up, the patient remained in good condition with normal renal function and adequate blood pressure control with dual antihypertensive therapy. Renal infarction complicating FMD of renal arteries is rare in the literature, with most of the cases having causative cardiovascular risk factors including coagulopathy, ischaemic heart disease, atrial fibrillation or structural cardiac abnormalities, none of which was present in this case. In conclusion, FMD may occur in atypical asymmetric presentations causing renal infarctions in both kidneys. Radiological interventions in such cases should focus on stabilizing renal lesions and renal function.