FIRST MEDICAL WARNING. A REAL HARAKIRI. HYPERTENSIONOLOGIST'S HYPERTENSION. SAGLIKER EFFECT. CLASSICAL MANUAL BP MEASUREMENTS MUST BE BANNED BY LEGISLATIONS AND ESH AND WHO

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Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and sagliker syndrome

PubMedID: 25701941Sagliker syndrome (SS) develops particularly before puberty while chronic kidney disease (CKD) reaches stage 3 with overt secondary hyperparathyroidism. We conducted screening for mutations in all the 13 exons of GNAS1 gene, all 3 exons of FGF23, and all 18 exons in FGFR3 genes in 23 patients. In 73.9% (17 of 23) patients, 17 genetic abnormalities in GNAS1 were detected. Seven (58.3%) of 12 nucleotide alterations comprised novel missense mutations and 3 nonsense. Mismutations were in different manner. There were also 6 heterozygous transversion polymorphisms in exons. Six were introngenic mutations (introns 65626, 70387, 70817). We found 10 mutations with different manner in FGF23 gene. Two were defined previously but remaining 8 were novel mutations. Three were in intronic region near exon 2. We sequenced all exons and intronic regions near exon-exon junction regions of FGFR3 gene. We found 22 mutations with different manner. Six were defined previously and remaining 16 were novel mutations. Eight of them were in intronic region near exon 11 and the last 2 were in noncoding exonic region of exons. One was in the exon-exon junction region between exon 11 and 12, therefore this mutation might be preventing splicing of this intron. Because the incidence of CKD late stage 3 is around 8% but the incidence of SS is around 0.5% in CKD, these gene mismutations might be responsible for bone deformities such as McCune-Albright syndrome and achondroplasias. Although our patients were not resembling any of them, they could be in between, and SS might be a combination-compulsion of bone dysplasias-hereditary osteodystrophies and CKD. © 2015 National Kidney Foundation, Inc.TF2009BAP43This study was partly sponsored by Y.S.'s own family budget and by Cukurova University, Adana, Türkiye for genetical material supplements under the grants of Cukurova University with the grant numbers of TF2009BAP8 and TF2009BAP43 , and Kahramanmaras Sutcu Imam University , Kahramanmaras with the grant number of 2013/7-9 D . Y.S. participated to the ISURAT Congress, March 13 to 15, 2014, Okinawa, Japan as a speaker on this subject and his flight was sponsored by ISURAT (International Society of Uremic Researches and Toxicity). The authors cordially thank Bahadir Edizer, Nuray Paylar, Ismail Yildiz, Nihal Inandiklioglu, Hayriye Sayarlioglu, Vidya Acharya, Ling Zhang, Ovidia Golea, Alaa Sabry, Dhananjay S. Ookalkar, Cristina Capusa,Dana Radulescu, Liliana Garneata, Gabriel Mircescu, Hedi Ben Maiz, Cheng Hsu Chen, Jorge Prado Rome, Mansour Benzegoutta, Marco Aurellio Bastidas Sanchez, Kamil Eyuboglu, Ersin Karatepe, Mustafa Esenturk, Onder Yavascan, Erdal Kose, Siddik Momin Adam, Idris Emir, Alicia Grzegorzevska, Erdal Tunc, Fatih Ocal, Erol Usta, Enis Dogramaci, Valery Shilo, Mitra Mahdavi Mazdeh, Azin Mohebi Nejad, Tarek El Tantawy, Emanuel Dario Silva, Mariel Haseitel, Wendy Hoy, Daniel Forlino, Maria Bianchi, Ramos Carillo Francesco, Udema Ekrikpo, Ramadan Edlew, Zaghloul Gouda, Mahmoud Bassuoni, Oktay Sekin, Xiao Hong Chen , Bo Shen , JianZhou Zou , NKF, Mumbai, India; China Japan Hospital, China; Timisoara Hospital, Romania; Mansoura University, Egypt; Nagpur Dialysis Center, India; Bucharest University, Romania; Charles Nichole Hospital, Tunisia; Taichung Hospital, Taiwan; DF Nacional Siglo XX1 Hospital, Mexico; Mila Hospital, Algeria; Buga Colombia; Duzce State Hospital, Turkey; Corum Dialysis Center, Turkey; Malatya Hospital, Turkey; Tepecik Hospital, Turkey; Fresenius Centers, Turkey; Emir Dialysis, Turkey; Poznan University, Poland; Bingol Dialysis Center, Turkey; Moscow Dialysis Center, Russia; Tehran University, Iran; Al Ahram Kidney Unit, Egypt; Hospital Dr. Ramon Madariaga, Argentina; University of Queensland, Australia; Centro Radiologica, Chaco, Argentina; National Northeast University, Corrientes, Argentina; University of UYO, Nigeria; Dialysis Centers, Libia; Alexandria University, Egypt; Ata Dialysis Center, Turkey; Fudan University, China for their participating personally in every steps of this study to be successful and for their generous friendly medical international assistances and providing such a large international compulsion patients togetherness and particularly for the creation of this brand new entity in the medical literature. The authors deeply appreciate Mr Ricky Ricardo Harvey, American Language Teacher in American Cultural and Language Center in Adana, Turkey for the needed revisions in the article