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DOI 10.1053/j.jrn.2011.10.030

Медицинская библиотека · Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation · 2012

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.

Yildiz Ismail, Sagliker Yahya, Demirhan Osman, Tunc Erdal, Inandiklioglu Nihal, Tasdemir Deniz, Acharya Vidya, Zhang Ling, Golea Ovidia, Sabry Alaa, Ookalkar Dhananjay S, Capusa Cristina, Radulescu Dana, Garneata Liliana, Mircescu Gabriel, Ben Maiz Hedi, Chen Cheng Hsu, Prado Rome Jorge, Benzegoutta Mansour, Paylar Nuray, Eyuboglu Kamil, Karatepe Ersin, Esenturk Mustafa, Yavascan Onder, Grzegorzevska Alicza, Shilo Valery, Mazdeh Mitra Mahdavi, Francesco Ramos Carillo, Gouda Zaghloul, Adam Siddik Momin, Emir Idris, Ocal Faith, Usta Erol, Kiralp Necati, Sagliker Cemal, Ozkaynak Piril Sagliker, Sagliker Hasan Sabit, Bassuoni Mahmoud, Sekin Oktay

СтатьяПоддержка исследования: вне правительства СШАОбзорПеревод в очереди

Аннотация

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.

Для цитирования: Yildiz Ismail, Sagliker Yahya, Demirhan Osman, Tunc Erdal, Inandiklioglu Nihal, Tasdemir Deniz, Acharya Vidya, Zhang Ling, Golea Ovidia, Sabry Alaa, Ookalkar Dhananjay S, Capusa Cristina, Radulescu Dana, Garneata Liliana, Mircescu Gabriel, Ben Maiz Hedi, Chen Cheng Hsu, Prado Rome Jorge, Benzegoutta Mansour, Paylar Nuray, Eyuboglu Kamil, Karatepe Ersin, Esenturk Mustafa, Yavascan Onder, Grzegorzevska Alicza, Shilo Valery, Mazdeh Mitra Mahdavi, Francesco Ramos Carillo, Gouda Zaghloul, Adam Siddik Momin, Emir Idris, Ocal Faith, Usta Erol, Kiralp Necati, Sagliker Cemal, Ozkaynak Piril Sagliker, Sagliker Hasan Sabit, Bassuoni Mahmoud, Sekin Oktay. 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.. Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation. 2012. DOI: 10.1053/j.jrn.2011.10.030.

Предметные рубрики MeSH

ChromograninsExonsFacial BonesGTP-Binding Protein alpha Subunits, GsHumansHyperparathyroidism, SecondaryKidney Failure, ChronicMutation, MissenseReceptors, Calcium-SensingSyndrome
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