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

Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms

Autosomal dominant polycystic kidney disease (ADPKD) in children is sometimes considered to be a benign condition, with morbidity manifesting in adulthood. Therefore, diagnostic screening of children at risk is controversial. The aim of our study was to to compare the manifestations of ADPKD in children diagnosed by postnatal ultrasound (US) screening versus those presenting with symptoms. This was a retrospective chart review of children with ADPKD assessed in a single centre between 1987 and 2007. Age and reason for diagnosis were noted, and children were separated into two groups: (1) those diagnosed on the basis of family-based screening; (2) those presenting with a symptom. The two groups were compared for renal size, number of cysts, estimated glomerular filtration rate (eGFR), the presence of hypertension and microalbuminuria. In the 47 children with ADPKD (21 females) from 33 families who satisfied the enrollment criteria, mean (standard deviation) age at referral and last follow-up was 7.2 (4.4) and 12.9 (5.1) years, respectively, and the mean follow-up duration was 5.7 (3.6) years. Diagnosis was based on postnatal US screening in 31 children, whereas 16 were diagnosed after presenting with symptoms. The proportions of children with nephromegaly, hypertension, microalbuminuria and decreased eGFR, respectively, were similar in both groups. Based on these results, we conclude that renal-related morbidities, including hypertension and microalbuminia, do occur in children with ADPKD and at a similar frequency in those diagnosed after presenting with symptoms and those diagnosed upon postnatal screening. We suggest that at-risk children should have regular checks to detect hypertension. Moreover, affected children may benefit from novel therapies to minimise cystic disease progression