Publications by authors named "Y Sagliker"
Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body.
View Article and Find Full Text PDFHypophosphatemia has been found to be associated with multiple organ dysfunction. In this study we aimed to investigate the association between low serum phosphorus and acute heart failure. A total of 213 subjects, 101 patients with acute heart failure and 112 healthy subjects were included in this case-control study.
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- Sagliker syndrome (SS) mainly develops before puberty and is linked to chronic kidney disease (CKD) that reaches stage 3 with secondary hyperparathyroidism.
- In a study of 23 patients, genetic screening revealed mutations in the GNAS1, FGF23, and FGFR3 genes, with a significant 73.9% of patients showing abnormalities in the GNAS1 gene.
- The findings suggest that these genetic mutations could be influencing the manifestation of bone deformities associated with SS, potentially acting as a link between different bone dysplasias and hereditary conditions related to CKD.
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.
J Ren Nutr
January 2012
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.
View Article and Find Full Text PDFPotential hearing loss was found to be high in a 10 patients with chronic kidney disease and Sagliker syndrome. The cause of hearing loss in these subjects remains unknown. We do not know whether those are the results of preexisting renal disease, hemodialysis, or other factors.
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