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 a-galactosidase A (alpha-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 alpha-Gal A enzyme and genetic analysis was performed in individuals with enzyme activity <= 1.2 lmol/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 m(2), 8.4% had proteinuria, and 2.5% had isolated microscopic hematuria. The mean value of patients' alpha-Gal A enzyme was detected as 2.93 +/- 1.92 mu mol/L/h. 152 patients had low levels of alpha-Gal A enzyme activity (<= 1.2 mu mol/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

Incidence, risk factors and severity of retinopathy of prematurity in Turkey (TR-ROP study): a prospective, multicentre study in 69 neonatal intensive care units

Background To evaluate the prevalence, risk factors and treatment of retinopathy of prematurity (ROP) in Turkey and to establish screening criteria for this condition. Methods A prospective cohort study (TR-ROP) was performed between 1 April 2016 and 30 April 2017 in 69 neonatal intensive care units (NICUs). Infants with a birth weight (BW)=1500 g or gestational age (GA) 1500 g or GA> 32 weeks with an unstable clinical course were included in the study. Predictors for the development of ROP were determined by logistic regression analyses. Results The TR-ROP study included 6115 infants: 4964 (81%) with a GA 32 weeks. Overall, 27% had any stage of ROP and 6.7% had severe ROP. A lower BW, smaller GA, total days on oxygen, late-onset sepsis, frequency of red blood cell transfusions and relative weight gain were identified as independent risk factors for severe ROP in infants with a BW=1500 g. Of all infants, 414 needed treatment and 395 (95.4%) of the treated infants had a BW <= 1500 g. Sixty-six (16%) of the treated infants did not fulfil the Early Treatment for Retinopathy of Prematurity requirements for treatment. Conclusions Screening of infants with a GA <= 34 weeks or a BW<1700 g appears to be appropriate in Turkey. Monitoring standards of neonatal care and conducting quality improvement projects across the country are recommended to improve neonatal outcomes in Turkish NICUs