[Show abstract][Hide abstract] ABSTRACT: 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.
Full-text · Article · Jan 2012 · Journal of Renal Nutrition
[Show abstract][Hide abstract] ABSTRACT: INTRODUCTION AND AIMS: Fibroblast Growth Factor 23 (FGF23) is a marker of endothelial dysfunction and atherosclerotic complications in coronary
heart disease and in chronic kidney disease (CKD) patients but the causal involvement of this factor in disturbed vasoregulation
in human diseases has never been investigated. To this scope we performed a randomized trial testing the effect of phosphate
binders (sevelamer and calcium acetate) on vascular function in a series of 100 incident stage 4 CKD patients with clearcut
hyperphosphatemia (serum phosphate >6mg/dl) without background cardiovascular complications in an experimental context where
the confounding effect of other treatments and comorbidities was minimized.
METHODS: We tested the effect of phosphate lowering interventions (calcium acetate, n=53, and sevelamer, n=47, in random order) on
flow mediated vasodilatation (FMD) in an incident series of 100 hyperphosphatemic patients with stage 4 CKD.
RESULTS: Serum phosphate fell with both treatments (P<0.001), more markedly so in sevelamer treated patients (P<0.001). FMD rose from
6.1 % to 7.1% (P<0.001) in sevelamer treated patients but remained unchanged in calcium-acetate treated patients [6.0% (4.7%-8.0%)
vs 6.0 %(4.4%-8.0%)]. In a combined analysis, treatment-induced changes in FMD were strongly (p<0.001) associated with simultaneous
changes in FGF23 as well as with changes in the two main biomarkers of inflammation in this population (C Reactive Protein
and Fetuin A). These relationships remained strong and consistent in a multiple regression analysis adjusting for changes
in serum phosphate and other factors.In a combined analysis of the two study arms, changes in FMD were associated (P<0.001)
with simultaneous changes in FGF23 and this correlation held true both in sevelamer treated (P=0.003) and calcium acetate
treated (P=0.04) patients.
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No preview · Article · Jun 2011 · CKJ: Clinical Kidney Journal
[Show abstract][Hide abstract] ABSTRACT: It is known that skeletal changes due to secondary hyperparathyroidism (SH) can be severe in chronic kidney disease (CKD). Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems.
In the past 8 years, we have encountered 40 cases of SS in SH and CKD by performing an international study in Turkey, India, Romania, Egypt, Maleysia, Tunis, and China.
The medical history of these patients showed that they did not receive proper therapy. Changes, particularly in children and teenagers, become irreversible, which was disastrous for the patients both aesthetically and psychologically.
Treatment must begin early and be the appropriate treatment given in centers with sophisticated skills. Otherwise, the inability to correct all the changes in the skull and face, to remodel a new face, to extending the height, and, most important, to convince the patients to face the dramatic psychological problems can be catastrophic for those patients.
Full-text · Article · Feb 2008 · Journal of Renal Nutrition
[Show abstract][Hide abstract] ABSTRACT: It is known that secondary hyperparathyroidism (SH) and particularly skeletal changes is a severe condition in chronic kidney disease (CKD). Sagliker syndrome (SS) is a very prominent feature in CKD including uglifying human face appearances, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems.
In the last 8 years we have confronted 36 extremely incredible SS cases in CKD by performing an international study in Turkey, India, Malaysia, Romania and Egypt.
In addition to the uglifying human face appearance, we found extremely severe X-ray and tomographical, pantomographical, histo-pathological changes in the head and whole body. Finally, we compared previous face pictures with recent ones. Just a few years earlier they had been pretty and good-looking young boys and girls. By investigating their history, we understood they had not received proper therapy and were in the late-irreversible period.
SS is a serious and severe complication of CKD. Late and improper treatment leads to abnormalities throughout skeleton particularly in the skull and face. Changes particularly in children and teens become irreversible-disastrous for appearance and psychological health. Appropriate treatment must begin as early as possible in specialized centers. It is possible that SS patients may survive long-term with dialysis, but with all those particular changes could anyone claim this type of life would continue in an acceptable way without extending their height, correcting all the changes in the skull and face, remodeling new faces and most particularly convincing the patients to deal with all those tragi-dramatic psychological problems?
Full-text · Article · Jan 2008 · Journal of nephrology