Fabry Disease Prevalence in Renal Replacement Therapy in Turkey

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from lack of alpha-galactosidase A (AGALA) activity in lysosomes. Objective: In this multicenter study, we aimed to evaluate the prevalence of FD in renal transplant (Tx) recipients in Turkey. We also screened dialysis patients as a control group. Methods: All Tx and dialysis patients were screened regardless of the presence of a primary disease. We measured the AGALA activity in all male patients as initial analysis. Mutation analysis was performed in male patients with decreased AGALA activity and in female patients as the initial diagnostic assay. Results: We screened 5,657 patients. A total of 17 mutations were identified. No significant difference was observed between the groups regarding the prevalence of patients with mutation. We found FD even in patients with presumed primary kidney diseases. Seventy-one relatives were analyzed and mutation was detected in 43 of them. We detected a patient with a new, unknown mutation (p.Cys223) in the GLA gene. Conclusions: There are important implications of the screening. First, detection of the undiagnosed patients leads to starting appropriate therapies for these patients. Second, the transmission of the disease to future generations may be prevented by prenatal screening after appropriate genetic counseling. In conclusion, we suggest screening of kidney Tx candidates for FD, regardless of etiologies of chronic kidney disease. (C) 2019 S. Karger AG, BaselC1 [Yalin, Serkan Feyyaz; Senates, Banu Erkalma; Oruc, Meric; Altiparmak, Mehmet Riza; Seyahi, Nurhan] Istanbul Univ Cerrahpasa, Cerrahpasa Med Fac, Dept Nephrol, Istanbul, Turkey.[Eren, Necmi] Kocaeli Univ, Dept Nephrol, Med Fac, Kocaeli, Turkey.[Sinangil, Ayse; Ecder, Tevfik] Bilim Univ, Dept Nephrol, Med Fac Med, Istanbul, Turkey.[Yilmaz, Vural Taner; Kocak, Huseyin] Akdeniz Univ, Div Nephrol, Med Fac, Antalya, Turkey.[Tatar, Erhan; Uslu, Adam] Bozyaka Training & Res Hosp, Dept Nephrol, Izmir, Turkey.[Ucarf, Ali Riza; Demir, Erol; Caliskan, Yasar; Turkmen, Aydin] Istanbul Univ, Fac Med, Div Nephrol, Istanbul, Turkey.[Sevinc, Mustafa; Basturk, Taner] Sisli Hamidiye Etfal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Can, Ozgur; Ogutmen, Melike Betul] Haydarpasa Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Gurkan, Alp; Kinalp, Can] Medicana, Dept Nephrol, Istanbul, Turkey.[Arik, Nurol] Ondokuz Mayis Univ, Dept Nephrol, Med Fac, Samsun, Turkey.[Ecder, Sabahat Alisir] Medeniyet Univ, Div Nephrol, Goztepe Training & Res Hosp, Istanbul, Turkey.[Uyar, Murathan] Gaziosmanpasa Hosp, Dept Nephrol, Istanbul, Turkey.[Yasar, Murat; Dursun, Belda] Pamukkale Univ, Dept Nephrol, Med Fac, Denizli, Turkey.[Gulcicek, Sibel] Istanbul Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Mese, Meral; Bahcebasi, Zerrin Bicik] Dr Lufti Kirdar Kartal Training & Res Hosp, Dept Nephrol, Istanbul, Turkey.[Dheir, Hamad; Sipahi, Savas; Genc, Ahmed] Sakarya Univ, Dept Nephrol, Tip Med Fac, Sakarya, Turkey.[Cakir, Ulkem] Acibadem Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Cevher, Simal Koksal; Dede, Fatih] Ankara Numune Training & Res Hosp, Dept Nephrol, Ankara, Turkey.[Turkmen, Kultigin] Necmettin Erbakan Univ, Div Nephrol, Meram Med Fac, Konya, Turkey.[Guven, Bahtisen] Bahcesehir Univ, Dept Nephrol, Med Fac, Istanbul, Turkey.[Taymez, Dilek Guven] Kocaeli State Hosp, Dept Nephrol, Kocaeli, Turkey.[Yelken, Berna] Mem Hosp, Dept Nephrol, Istanbul, Turkey

in Turkey: the data from TSN-GOLD Working Group

Purpose Hematuria is one of the most common laboratory findings in nephrology practice. To date, there is no enough data regarding the clinical and histopathologic characteristics of primary glomerular disease (PGD) patients with hematuria in our country. Methods Data were obtained from national multicenter (47 centers) data entered into the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) database between May 2009 and June 2019. The data of all PGD patients over the age of 16 years who were diagnosed with renal biopsy and had hematuria data were included in the study. Demographic characteristics, laboratory and biopsy findings were also recorded. Results Data of 3394 PGD patients were included in the study. While 1699 (50.1%) patients had hematuria, 1695 (49.9%) patients did not have hematuria. Patients with hematuria had statistically higher systolic blood pressure, serum blood urea nitrogen, creatinine, albumin, levels and urine pyuria. However, these patients had statistically lower age, body mass index, presence of hypertension and diabetes, eGFR, 24-h proteinuria, serum total, HDL and LDL cholesterol, and C3 levels when compared with patients without hematuria. Hematuria was present 609 of 1733 patients (35.8%) among the patients presenting with nephrotic syndrome, while it was presented in 1090 of 1661 (64.2%) patients in non-nephrotics (p < 0.001). Conclusion This is the first multicenter national report regarding the demographic and histopathologic data of PGD patients with or without hematuria. Hematuria, a feature of nephritic syndrome, was found at a higher than expected in the PGDs presenting with nephrotic syndrome in our national database.C1 [Sumnu, Abdullah] Medipol Univ, Med Fac, Dept Nephrol, Medipol Mega Hastanesi, Goztepe Mahallesi Metin Sk 4, Istanbul, Turkey.[Turkmen, Kultigin] Necmettin Erbakan Univ, Meram Med Fac, Nephrol, Konya, Turkey.[Cebeci, Egemen; Uzun, Sami; Ozturk, Savas] Haseki Training & Res Hosp, Nephrol, Istanbul, Turkey.[Turkmen, Aydin] Istanbul Univ, Istanbul Med Fac, Nephrol, Istanbul, Turkey.[Eren, Necmi; Ergul, Metin] Kocaeli Univ, Nephrol Med Fac, Kocaeli, Turkey.[Seyahi, Nurhan; Dincer, Mevlut Tamer] Istanbul Univ, Cerrahpasa Med Fac, Nephrol, Istanbul, Turkey.[Oruc, Aysegul; Gullulu, Mustafa] Uludag Univ, Med Fac, Nephrol, Bursa, Turkey.[Dede, Fatih; Piskinpasa, Serhan] Ankara Numune Training & Res Hosp, Nephrol, Ankara, Turkey.[Derici, Ulver; Akcay, Omer Faruk] Gazi Univ, Med Fac, Nephrol, Ankara, Turkey.[Basturk, Taner; Unsal, Abdulkadir] Hamidiye Sisli Etfal Training & Res Hosp, Nephrol, Istanbul, Turkey.[Sahin, Garip] Eskisehir Osmangazi Univ, Med Fac, Nephrol, Eskisehir, Turkey.[Sipahioglu, Murat; Koyuncu, Sumeyra] Erciyes Univ, Med Fac, Nephrol, Kayseri, Turkey.[Sahin, Gulizar Manga; Gok, Mahmut] Sultan Abdulhamit Han Res & Training Hosp, Nephrol, Istanbul, Turkey.[Tatar, Erhan] Bozyaka Training & Res Hosp, Nephrol, Izmir, Turkey.[Dursun, Belda] Pamukkale Univ, Med Fac, Nephrol, Denizli, Turkey.[Sipahi, Savas] Sakarya Univ, Med Fac, Nephrol, Sakarya, Turkey.[Yilmaz, Murvet] Bakirkoy Sadi Konuk Training & Res Hosp, Nephrol, Istanbul, Turkey.[Suleymanlar, Gultekin] Akdeniz Univ, Med Fac, Nephrol, Antalya, Turkey.[Ulu, Sena] Afyon Kocatepe Univ, Med Fac, Nephrol, Afyon, Turkey.[Gungor, Ozkan] Sutcu Imam Univ, Med Fac, Nephrol, Kahramanmaras, Turkey.[Kutlay, Sim] Ankara Univ, Ibni Sina Hosp, Med Fac, Nephrol, Ankara, Turkey.[Bahcebasi, Zerrin Bicik] Dr Lutfi Kirdar Kartal Training & Res Hosp, Nephrol, Istanbul, Turkey.[Sahin, Idris] Inonu Univ, Med Fac, Nephrol, Malatya, Turkey.[Kurultak, Ilhan] Trakya Univ, Med Fac, Nephrol, Edirne, Turkey.[Sevinc, Can] Ataturk Univ, Med Fac, Nephrol, Erzurum, Turkey.[Yilmaz, Zulfikar] Dicle Univ, Diyarbakir, Turkey.[Kazancioglu, Rumeyza Turan] Bezmialem Vakif Univ, Med Fac, Nephrol, Istanbul, Turkey.[Cavdar, Caner] Dokuz Eylul Univ, Med Fac, Nephrol, Izmir, Turkey.[Candan, Ferhan] Cumhuriyet Univ, Med Fac, Nephrol, Sivas, Turkey.[Aydin, Zeki] Darica Farabi Training & Res Hosp, Nephrol, Kocaeli, Turkey.[Oygar, Deren] Burhan Nalbantoglu State Hosp, Nephrol, Nicosia, Cyprus.[Gul, Bulent] Bursa Yuksek Ihtisas Training & Res Hosp, Nephrol, Bursa, Turkey.[Altun, Bulent] Hacettepe Univ, Med Fac, Nephrol, Ankara, Turkey.[Paydas, Saime] Cukurova Univ, Med Fac, Nephrol, Adana, Turkey.[Istemihan, Zulal] Istanbul Univ, Istanbul Med Fac, Internal Med, Istanbul, Turkey

Diseases Working Group

Background The largest data on the epidemiology of primary glomerular diseases (PGDs) are obtained from the databases of countries or centers. Here, we present the extended results of the Primary Glomerular Diseases Study of the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) Working Group. Methods Data of patients who underwent renal biopsy and received the diagnosis of PGD were recorded in the database prepared for the study. A total of 4399 patients from 47 centers were evaluated between May 2009 and May 2019. The data obtained at the time of kidney biopsy were analyzed. After the exclusion of patients without light microscopy and immunofluorescence microscopy findings, a total of 3875 patients were included in the study. Results The mean age was 41.5 +/- 14.9 years. 1690 patients were female (43.6%) and 2185 (56.3%) were male. Nephrotic syndrome was the most common biopsy indication (51.7%). This was followed by asymptomatic urinary abnormalities (18.3%) and nephritic syndrome (17.8%). The most common PGD was IgA nephropathy (25.7%) followed by membranous nephropathy (25.6%) and focal segmental glomerulosclerosis (21.9%). The mean total number of glomeruli per biopsy was 17 +/- 10. The mean baseline systolic blood pressure was 130 +/- 20 mmHg and diastolic blood pressure was 81 +/- 12 mmHg. The median proteinuria, serum creatinine, estimated GFR, and mean albumin values were 3300 (IQR: 1467-6307) mg/day, 1.0 (IQR: 0.7-1.6) mg/dL, 82.9 (IQR: 47.0-113.0) mL/min and 3.2 +/- 0.9 g/dL, respectively. Conclusions The distribution of PGDs in Turkey has become similar to that in other European countries. IgA nephropathy diagnosed via renal biopsy has become more prevalent compared to membranous nephropathy.C1 [Turkmen, Aydin; Yazici, Halil] Istanbul Univ, Istanbul Med Fac, Nephrol, Istanbul, Turkey.[Sumnu, Abdullah] Istanbul Medipol Univ, Med Fac, Nephrol, Istanbul, Turkey.[Cebeci, Egemen; Ozturk, Savas] Haseki Training & Res Hosp, Nephrol, Istanbul, Turkey.[Eren, Necmi] Kocaeli Univ, Med Fac, Nephrol, Kocaeli, Turkey.[Seyahi, Nurhan] Istanbul Univ, Cerrahpasa Med Fac, Nephrol, Istanbul, Turkey.[Dilek, Kamil] Uludag Univ, Med Fac, Nephrol, Bursa, Turkey.[Dede, Fatih] Ankara Numune Training & Res Hosp, Nephrol, Ankara, Turkey.[Derici, Ulver] Gazi Univ, Med Fac, Nephrol, Ankara, Turkey.[Unsal, Abdulkadir] Hamidiye Sisli Etfal Training & Res Hosp, Nephrol, Istanbul, Turkey.[Sahin, Garip] Eskisehir Osmangazi Univ, Med Fac, Nephrol, Eskisehir, Turkey.[Sipahioglu, Murat] Erciyes Univ, Med Fac, Nephrol, Kayseri, Turkey.[Gok, Mahmut; Sahin, Gulizar Manga] Sultan Abdulhamit Han Training & Res Hosp, Nephrol, Istanbul, Turkey.[Tatar, Erhan] Izmir Bozyaka Training & Res Hosp, Nephrol, Izmir, Turkey.[Dursun, Belda] Pamukkale Univ, Med Fac, Nephrol, Denizli, Turkey.[Sipahi, Savas] Sakarya Univ, Med Fac, Nephrol, Adapazari, Sakarya, Turkey.[Yilmaz, Murvet] Bakirkoy Sadi Konuk Training & Res Hosp, Nephrol, Istanbul, Turkey.[Suleymanlar, Gultekin] Akdeniz Univ, Med Fac, Nephrol, Antalya, Turkey.[Ulu, Sena] Afyon Kocatepe Univ, Med Fac, Nephrol, Afyon, Turkey.[Gungor, Ozkan] Sutcu Imam Univ, Med Fac, Nephrol, Kahramanmaras, Turkey.[Kutlay, Sim] Ankara Univ, Ibni Sina Hosp, Med Fac, Nephrol, Ankara, Turkey.[Bahcebasi, Zerrin Bicik] Dr Lutfi Kirdar Kartal Training & Res Hosp, Nephrol, Istanbul, Turkey.[Sahin, Idris] Inonu Univ, Med Fac, Nephrol, Malatya, Turkey.[Kurultak, Ilhan] Trakya Univ, Med Fac, Nephrol, Edirne, Turkey.[Turkmen, Kultigin] Necmettin Erbakan Univ, Meram Med Fac, Nephrol, Konya, Turkey.[Yilmaz, Zulfikar] Dicle Univ, Med Fac, Nephrol, Diyarbakir, Turkey.[Kazancioglu, Rumeyza Turan] Bezmialem Vakif Univ, Med Fac, Nephrol, Istanbul, Turkey.[Cavdar, Caner] Dokuz Eylul Univ, Med Fac, Nephrol, Izmir, Turkey.[Candan, Ferhan] Cumhuriyet Univ, Med Fac, Nephrol, Sivas, Turkey.[Aydin, Zeki] Darica Farabi Training & Res Hosp, Nephrol, Kocaeli, Turkey.[Oygar, Duriye Deren] Doktor Burhan Nalbantoglu State Hosp, Nicosia, Cyprus.[Gul, Cuma Bulent] Bursa Yuksek Ihtisas Training & Res Hosp, Nephrol, Bursa, Turkey.[Arici, Mustafa] Hacettepe Univ, Med Fac, Nephrol, Ankara, Turkey.[Paydas, Saime] Cukurova Univ, Med Fac, Nephrol, Adana, Turkey.[Taymez, Dilek Guven] Kocaeli State Hosp, Nephrol, Kocaeli, Turkey.[Kucuk, Mehmet] Okmeydani Training & Res Hosp, Nephrol, Istanbul, Turkey.[Trablus, Sinan] Istanbul Training & Res Hosp, Nephrol, Istanbul, Turkey.[Turgutalp, Kenan] Mersin Univ, Med Fac, Nephrol, Mersin, Turkey.[Koc, Leyla] Taksim Training & Res Hosp, Nephrol, Istanbul, Turkey.[Sezer, Siren] Baskent Univ, Med Fac, Nephrol, Ankara, Turkey.[Duranay, Murat] Ankara Numune Training & Res Hosp, Nephrol, Ankara, Turkey.[Bardak, Simge] Batman State Hosp, Nephrol, Batman, Turkey.[Altintepe, Lutfullah] Selcuk Univ, Selcuk Med Fac, Nephrol, Konya, Turkey.[Arikan, Izzet Hakki] Marmara Univ, Med Fac, Nephrol, Istanbul, Turkey.[Azak, Alper] Balikesir Training & Res Hosp, Nephrol, Balikesir, Turkey.[Odabas, Ali Riza] Goztepe Training & Res Hosp, Nephrol, Istanbul, Turkey