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-Sensin
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- 作者：Ismail Yildiz ; MD&lowast ; ; Yahya Sagliker ; MD&dagger ; ; ysagliker@yahoo.com ; Osman Demirhan ; MD&dagger ; ; Erdal Tunc ; PhD&dagger ; ; Nihal Inandiklioglu ; PhD&dagger ; ; Deniz Tasdemir ; PhD&dagger ; ; Vidya Acharya ; MD&Dagger ; ; Ling Zhang ; MD§ ; ; Ovidia Golea ; MD¶ ; ; Alaa Sabry ; MD?/sup> ; Dhananjay S. Ookalkar ; MD&lowast ; &lowast ; ; Cristina Capusa ; MD&dagger ; &dagger ; ; Dana Radulescu ; MD&dagger ; &dagger ; ; Liliana Garneata ; MD&dagger ; &dagger ; ; Gabriel Mircescu ; MD&dagger ; &dagger ; ; Hedi Ben Maiz ; MD&Dagger ; &Dagger ; ; Cheng Hsu Chen ; MD§ ; § ; ; Jorge Prado Rome ; MD¶ ; ¶ ; ; Mansour Benzegoutta ; MD¡¬?/sup> ; Nuray Paylar ; PhD&lowast ; &lowast ; &lowast ; ; Kamil Eyuboglu ; MD&dagger ; &dagger ; &dagger ; ; Ersin Karatepe ; MD&Dagger ; &Dagger ; &Dagger ; ; Mustafa Esenturk ; MD§ ; § ; § ; ; Onder Yavascan ; MD¶ ; ¶ ; ¶ ; ; Alicza Grzegorzevska ; MD¡¬¡¬?/sup> ; Valery Shilo ; MD&lowast ; &lowast ; &lowast ; &lowast ; ; Mitra Mahdavi Mazdeh ; MD&dagger ; &dagger ; &dagger ; &dagger ; ; Ramos Carillo Francesco ; MD¶ ; ¶ ; ; Zaghloul Gouda ; MD&Dagger ; &Dagger ; &Dagger ; &Dagger ; ; Siddik Momin Adam ; MD§ ; § ; § ; § ; ; Idris Emir ; MD¶ ; ¶ ; ¶ ; ¶ ; ; Faith Ocal ; MD&lowast ; ; Erol Usta ; MD¡¬¡¬¡¬?/sup> ; Necati Kiralp ; MD§ ; § ; § ; § ; ; Cemal Sagliker ; MD&lowast ; &lowast ; &lowast ; ; Piril Sagliker Ozkaynak ; MD&lowast ; &lowast ; &lowast ; ; Hasan Sabit Sagliker ; MD&lowast ; &lowast ; &lowast ; ; Mahmoud Bassuoni ; MD&Dagger ; &Dagger ; &Dagger ; &Dagger ; ; Oktay Sekin ; MD&lowast ; &lowast ; &lowast ; &lowast ; &lowast ;
- 刊名：Journal of Renal Nutrition
- 出版年：2012
- 出版时间：January, 2012
- 年：2012
- 卷：22
- 期：1
- 页码：157-161
- 全文大小：280 K
文摘
Hypotheses 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.