Person: DİLEK, KAMİL
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Publication Screening for fabry disease in patients who underwent renal biopsy and identification of a novel mutation(Aves, 2021-04-01) Oruç, Ayşegül; Yıldız, Abdulmecit; Akgür, Suat; Aydın, Mehmet Fethullah; Ersoy, Alparslan; Yavuz, Mahmut; Dilek, Kamil; Güllülü, Mustafa; ORUÇ, AYŞEGÜL; YILDIZ, ABDULMECİT; AKGÜR, SUAT; Aydın, Mehmet Fethullah; ERSOY, ALPARSLAN; YAVUZ, MAHMUT; DİLEK, KAMİL; GÜLLÜLÜ, MUSTAFA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nefroloji Anabilim Dalı.; 0000-0002-0342-9692; 0000-0002-5665-7402; AAJ-8220-2020; AAH-4002-2021; HIG-9032-2022; EJA-1761-2022; CPX-5894-2022; EHM-7377-2022; EUF-5229-2022; JGS-9425-2023Background: The X-linked Fabry disease (FD) with lysosomal storage of globotriaosylceramide (Gb3) due to alpha-galactosidase deficiency contributes to nephropathy consisting of proteinuria and renal failure eventually. Early initiation of the enzyme replacement therapy promises favorable renal outcomes. With the importance of early diagnosis, we screened FD among proteinuric patients in whom biopsy findings revealed Fabry nephropathy.Methods: Patients with light microscopic biopsy findings of vacuolated cells, focal and/or segmental glomerular sclerosis, tubular atrophy, and interstitial fibrosis were not associated with particular etiology, the presence of acro-paresthesia, angiokeratomas, and cornea verticillata, stroke history younger than 50 years, family history of renal failure with no cardiovascular risk factors were screened. Fifty-three of 308 consecutive adult patients (45.34 +/- 15.23 years old, 60.1% male) who underwent renal biopsy because of proteinuria were enrolled in the study. Screening for FD was performed by assessing alpha-Gal A activity in dried blood spots (DBS) for males and by genetic testing for females.Results: Fifty-three patients (39.94 +/- 11.97 years, 69.8% male) who underwent renal biopsy were screened. Laboratory findings revealed mean serum creatinine of 1.44 +/- 1.06 mg/dL, mean estimated glomerular filtration rate of 78.31 +/- 39.89 mL/min/1.73 m(2), and mean proteinuria of 4.32 +/- 3 g/day, whereas the females genetic screening was negative. Two of 37 males had low enzyme activity (<0.1 micmol/L/h) and confirmed FD by genetic analysis in whom one had a novel mutation of GLA gene (c.(1047G>A) p.(Trp349*)).Conclusion: It is worth noting that FD screening in patients with proteinuria, in whom vacuolated cells, mesangial expansion, glomerulosclerosis, interstitial fibrosis, and tubular atrophy of unknown etiology, are present in the renal biopsy either with or without a family history of kidney disease.Publication Acute effect of hemodialysis on arterial elasticity(TÜBİTAK, 2015-01-01) Sağ, Saim; Yeşilbursa, Dilek; Yıldız, Abdülmecit; Dilek, Kamil; Şentürk, Tunay; Serdar, Osman Akın; Aydınlar, Ali; Sağ, Saim; YEŞİLBURSA, DİLEK; YILDIZ, ABDULMECİT; DİLEK, KAMİL; ŞENTÜRK, TUNAY; SERDAR, OSMAN AKIN; AYDINLAR, ALİ; Uludağ Üniversitesi/Tıp Fakültesi/Kardiyoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Nefroloji Anabilim Dalı.; 0000-0003-1744-8883; 0000-0001-8404-8252; AAW-9185-2020; C-1517-2017; AAF-5116-2019; AAI-6632-2021; EHA-0046-2022; HIG-9032-2022; EUF-5229-2022Background/aim: Reduced arterial elasticity is an independent predictor of cardiovascular mortality in patients with end-stage renal disease (ESRD). Hemodialysis (HD) treatment per se can bring additional risk factors for vascular disease. Our study was designed to determine whether a single hemodialysis session leads to an acute alteration in parameters of arterial elasticity in ESRD.Materials and methods: In this study, 58 patients undergoing chronic hemodialysis and 29 healthy controls were enrolled. Large artery elasticity index (LAEI) and the small artery elasticity index (SAEI) were measured by applanation tonometry. The acute effect of a hemodialysis session on arterial elasticity indices was assessed by comparison of prehemodialysis and posthemodialysis determinations.Results: At baseline, LAEI did not differ significantly in patients compared with controls. In contrast, the SAEI was significantly lower in patients (4.1 +/- 2.6 mL/mmHg x 100) than in healthy individuals (8.9 +/- 3.4 mL/mmHg x 100, P < 0.05). In patients with ESRD, no significant changes in LAEI was observed after HD, but SAEI deteriorated significantly (from 4.1 +/- 2.6 mL/mmHg x 100 to 3.4 +/- 2.3, P < 0.05).Conclusion: We conclude that ESRD patients face a significant reduction in SAEI, which is exacerbated by a dialysis procedure.Publication Clinical significance of genetic in patients with C3 glomerulopathies(Oxford Univ Press, 2017-05-01) Oruç, Ayşegül; Yıldız, Abdulmecit; Berdeli, Afig; Yavuz, Mahmut; Dilek, Kamil; Güllülü, Mustafa; Ersoy, Alparslan; ORUÇ, AYŞEGÜL; YILDIZ, ABDULMECİT; YAVUZ, MAHMUT; DİLEK, KAMİL; GÜLLÜLÜ, MUSTAFA; ERSOY, ALPARSLAN; Uludağ Üniversitesi; 0000-0002-0342-9692; 0000-0002-4791-8367; 0000-0002-0710-0923; AAH-4002-2021; AAH-5054-2021; HIG-9032-2022; EHM-7377-2022; EUF-5229-2022; CTG-8811-2022; AAH-5054-2021Publication Effects of anti-tumor necrosis factor therapy on kidney function in patients with inflammatory arthritis(Oxford Univ Press, 2013-05-01) Öztürk, Oğuzhan; Yıldız, Abdulmecit; Gül, Cuma Bülent; Dilek, Kamil; GÜL, CUMA BÜLENT; DİLEK, KAMİL; Uludağ Üniversitesi/Tıp Fakültesi; 0000-0003-2467-9356; A-7063-2018; EUF-5229-2022