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International Evaluation of Unrecognizably Uglifying Human Faces in Late and Severe Secondary Hyperparathyroidism in Chronic Kidney Disease. Sagliker Syndrome. A Unique Catastrophic Entity, Cytogenetic Studies for Chromosomal Abnormalities, Calcium-Sensing Receptor Gene and GNAS1 Mutations. Striking and Promising Missense Mutations on the GNAS1 Gene Exons 1, 4, 10, 4

By Ismail Yildiz, Yahya Sagliker, Osman Demirhan, Erdal Tunc, Nihal Inandiklioglu, Deniz Tasdemir and Vidya Acharya


WOS: 000298638800030PubMed ID: 22200434Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS. (C) 2012 by the National Kidney Foundation, Inc. All rights reserved.Cukurova University, Adana, Turkey under Cukurova UniversityCukurova University [TF2009BAP8, TF2009BAP43, TF2009BAP21, TF2009D2]; ISURAT(International Society on Uremia Research and Toxicity)This study was mostly sponsored by Y.S. and by Cukurova University, Adana, Turkey for genetical material supplements under Cukurova University grants TF2009BAP8, TF2009BAP43, TF2009BAP21, and TF2009D2. Y.S. also participated to the ISURAT Congress, May 12-14, 2001, Nagoya, Japan as a speaker on this subject; his flight was sponsored by ISURAT(International Society on Uremia Research and Toxicity)

Year: 2012
DOI identifier: 10.1053/j.jrn.2011.10.030
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