Neurologic Manifestations in Sagliker Syndrome: Uglifying Human Face Appearance in Severe and Late Secondary Hyperparathyroidism in Chronic Renal Failure Patients

Gıray, Semih; Sağlıker, Yahya; Yıldız, İsmail; Halvacı, İlker; Paylar, N.; Öçal, F.; Balal, Mustafa; Özkaynak, Pırıl Sağliker; Paydaş, Saime; Sagliker, C.; Sağlıker, Hasan Sabit; Kıralp, Necati; Adam, Siddik Momin; Esentürk, Mustafa; Gocmez, Erdal; Taşkapan, Hülya; Yuksekgonul, Musa; Emir, Idris; Guler, Turgay; Yakar, Hasan; Sekin, Oktay; Kayali, Erkan; Caliskan, Sihli; Eskiocak, Ali Fuat; Ogruk, Bulent; Guzelyurt, Tamer; Kurt, Cemal

doi:10.1053/j.jrn.2006.04.018

Cited by 19 publications

(10 citation statements)

References 7 publications

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“…The Sagliker syndrome, recently described by Sagliker et al [19], also must be considered in the differential diagnosis of ROD, since it is seen in 0.5 % of patients with CKD [20]. However, in addition to HPT-II and CKD, the diagnostic criteria for this syndrome include short stature, extremely severe maxillary and mandibular changes (uglifying the face), soft and histopathologically verified benign epithelial hyperplasia, severe teeth/dental abnormalities, fingertip changes, knee and scapula deformities, abnormalities in audition, and severe neurological and psychological disturbances [20,21].…”

mentioning

confidence: 99%

Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease

Lopes

Albuquerque

Germano

et al. 2015

Oral Maxillofac Surg

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Renal osteodystrophy (ROD) is the bone pathology that occurs as an uncommon complication related to the several alterations in mineral metabolism present in patients with chronic kidney disease (CKD). This paper describes two cases of severe ROD affecting the maxilla and mandible and causing facial disfigurement of a young and a middle-aged female patient with CKD. Both patients had a history of secondary hyperparathyroidism, previously treated by surgery. The pathogenesis of the disease, as well as its clinical, imaging, and histopathological features, and management of the patient are discussed.

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mentioning

confidence: 99%

Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease

Lopes

Albuquerque

Germano

et al. 2015

Oral Maxillofac Surg

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“…It is also known that the resulting gene dosage imbalance of aneuploidies has a noticeable effect on the phenotype. We think that the aneuploidies of chromosomes 1,3,8,10,12,13,15,16,17,19,20, and 22 that we found in our patients could also be of great importance in terms of early diagnosis and evaluation of the prognosis of SS. Seventeen gaps, two chromatid breaks, and FS at bands q23x17, p31, q23, and p23 on chromosome 2 were also seen in four patients in our study.…”

Section: Discussionmentioning

confidence: 60%

“…This syndrome starts and develops particularly before puberty while chronic kidney disease (CKD) reaches the stage III level and as a continuation of secondary hyperparathyroidism. Defining prominent features of CKD, including uglifying human facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, fingertip changes, neurologic manifestations, audiological findings, and severe psychological problems (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13) (Figures 1 and 2), are also important findings for this unique syndrome. The etiology of SS is not known.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome

Tunç¹,

Demırhan²,

Sağlıker³

et al. 2017

Turk J Med Sci

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Twenty-three patients and 23 control subjects were admitted to Balcalı Hospital of the Medical Faculty of Çukurova University in Turkey between 2009 and 2011. Chromosomal analysis was performed according to standard cytogenetic methods. Full sequencing of exons 2 and 3 of the CaSR gene was done. Results:We found base alterations and deletions in exons 2 and 3 of the CaSR gene. We also found a statistically significant increase in the rate of CAs in patients compared to controls. In total we evaluated 639 metaphase plaques in 23 patients and found 241 CAs, of which 88% were structural and 12% were numerical abnormalities. Conclusion:There is no relation between the etiology of SS and nucleotide alterations that we could find in exons 2 and 3 of the CaSR gene. Our data suggest that there may be a correlation between CAs and the progression of SS.

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“…It has been described in patients affected by severe hyperparathyroidism: severe skull and facial bone changes are associated with alteration of face features as well as neuropsychiatric disease. The most frequent neurological manifestations of this syndrome are headache, polyneuropathy, cranial neuropathy, fatigue and psychiatric disorders (60). Treatment of neurological complications of CKD-MBD may be highly challenging.…”

Section: Neurological Complications Secondary To Mineral and Bone Dismentioning

confidence: 99%

Neurological complications of hemodialysis: state of the art

Rizzo

Frediani²,

Basile³

et al. 2011

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Neurological complications frequently affect chronic kidney disease patients. They are important causes of morbidity and mortality. We present a review of neurological complications affecting hemodialysis patients, focusing on classical and new aspects. Neurological complications can be classified as central or peripheral, but they also include other conditions such as muscle and autonomic disorders. Neurological complications in hemodialysis patients are often underdiagnosed and undertreated. Dialysis treatment can modify the clinical pattern and the course of neurological complications, but it may also directly induce some specific, dialysis-related complications. A strict collaboration between nephrologists, neurologists and other specialists can potentially improve prevention and management of these disorders and improve quality of life for hemodialysis patients.

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Neurologic Manifestations in Sagliker Syndrome: Uglifying Human Face Appearance in Severe and Late Secondary Hyperparathyroidism in Chronic Renal Failure Patients

Cited by 19 publications

References 7 publications

Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease

Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease

Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome

Neurological complications of hemodialysis: state of the art

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