caa a22 4500 445882492 CHVBK 20180317145548.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10157-010-0367-z doi (NATIONALLICENCE)springer-10.1007/s10157-010-0367-z Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features [Elektronische Daten] [Rezan Topaloglu, Esra Baskın, Elif Bahat, Salih Kavukcu, Nilgun Cakar, Osman Donmez, Ayfer Guven, Salim Calıskan, Ozlem Erdogan, Fatos Yalcınkaya] Background: The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). Methods: A questionnaire comprising HRTDs was sent to the centers. The cohort was composed of 226 patients (109 girls, 117 boys). Results: The distribution of patients according to HRTD was as follows: 45.6% distal renal tubular acidosis (dRTA), 26.6% proximal RTA (pRTA), 3.5% typeIV RTA, 21.7% Bartter's syndrome, and 2.6% Gitelman's syndrome. Cystinosis was the most common cause for renal Fanconi syndrome. Age at diagnosis was between 1month and 16years. Overall consanguinity rate was as high as 72%. Rate of affected siblings was 28.5%. pRTA and typeIV RTA were more common in males. Most common presenting symptoms were failure to thrive, lack of appetite, and vomiting. Nephropathic cystinosis was the most common HRTD leading to renal failure, followed by dRTA. Hearing loss was present in 23% of patients with dRTA and 6.3% of patients with Bartter's syndrome. No other patient had hearing loss. Convulsions were noted in Bartter's syndrome patients with failure to thrive, especially in those with height below 3%. Polyuria and nephrocalcinosis were more common in dRTA patients with deafness compared with patients without deafness. Conclusions: This data reflected a high number of HRTDs as a result of high consanguinity rate in Turkey. Our data serve as a database of demographic, clinical, and laboratory features of this rare disease group. Japanese Society of Nephrology, 2010 Bartter's syndrome nationallicence Cystinosis nationallicence Demography nationallicence dRTA nationallicence Failure to thrive nationallicence Features nationallicence Gitelman's syndrome nationallicence Hereditary renal tubular disorders nationallicence Prevalence nationallicence pRTA nationallicence Topaloglu Rezan Department of Pediatric Nephrology, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey aut Baskın Esra Department of Pediatric Nephrology, Faculty of Medicine, Baskent University, Ankara, Turkey aut Bahat Elif Department of Pediatric Nephrology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey aut Kavukcu Salih Department of Pediatric Nephrology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey aut Cakar Nilgun Department of Pediatric Nephrology, Minister of Health Ulucanlar Teaching Hospital, Ankara, Turkey aut Donmez Osman Department of Pediatric Nephrology, Faculty of Medicine, Uludag University, Bursa, Turkey aut Guven Ayfer Department of Pediatric Nephrology, Faculty of Medicine, Akdeniz University, Antalya, Turkey aut Calıskan Salim Department of Pediatric Nephrology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey aut Erdogan Ozlem Department of Pediatric Nephrology, Dr Sami Ulus Children Hospital, Ankara, Turkey aut Yalcınkaya Fatos Department of Pediatric Nephrology, Faculty of Medicine, Ankara University, Ankara, Turkey aut Clinical and Experimental Nephrology Springer Japan 15/1(2011-02-01), 108-113 1342-1751 15:1<108 2011 15 10157 https://doi.org/10.1007/s10157-010-0367-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-010-0367-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Topaloglu Rezan Department of Pediatric Nephrology, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey aut NATIONALLICENCE 700 1- Baskın Esra Department of Pediatric Nephrology, Faculty of Medicine, Baskent University, Ankara, Turkey aut NATIONALLICENCE 700 1- Bahat Elif Department of Pediatric Nephrology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey aut NATIONALLICENCE 700 1- Kavukcu Salih Department of Pediatric Nephrology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey aut NATIONALLICENCE 700 1- Cakar Nilgun Department of Pediatric Nephrology, Minister of Health Ulucanlar Teaching Hospital, Ankara, Turkey aut NATIONALLICENCE 700 1- Donmez Osman Department of Pediatric Nephrology, Faculty of Medicine, Uludag University, Bursa, Turkey aut NATIONALLICENCE 700 1- Guven Ayfer Department of Pediatric Nephrology, Faculty of Medicine, Akdeniz University, Antalya, Turkey aut NATIONALLICENCE 700 1- Calıskan Salim Department of Pediatric Nephrology, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey aut NATIONALLICENCE 700 1- Erdogan Ozlem Department of Pediatric Nephrology, Dr Sami Ulus Children Hospital, Ankara, Turkey aut NATIONALLICENCE 700 1- Yalcınkaya Fatos Department of Pediatric Nephrology, Faculty of Medicine, Ankara University, Ankara, Turkey aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/1(2011-02-01), 108-113 1342-1751 15:1<108 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer