Clinical status of Sagliker syndrome: a case report and literature review

Chen, Xiao Hong; Shen, Bo; Zou, Jianzhou; Ding, Xiaoqiang; Z, Liu; Lv, Wen-lv; Cao, Xuesen; Nie, Yuxin

doi:10.3109/0886022x.2014.890110

Cited by 14 publications

(14 citation statements)

References 7 publications

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“…This very severe disorder was posteriorly found to be associated with GNAS1 gene mutations. 24,25 Clinically, patients affected by Sagliker syndrome exhibit secondary HPT, severe skull and jaw bone alterations (microscopically consistent with OF), short stature, malocclusion, teeth abnormalities, upward-bended fingertips, knee and scapula distortions, neuropsychiatric disorders, and hearing loss. 25,26 In our sample, 4 patients affected by OF/RO were later considered to have symptoms consistent with Sagliker syndrome, although…”

Section: Discussionmentioning

confidence: 99%

“…Chronic kidney disease (CKD) is a multifactorial disorder characterized by progressive and irreversible loss of renal function with glomerular filtration rates less than 60 mL/min/1.73 m 2 or persistent albuminuria for 3 months, 1,2 consequently leading to mineral and bone complications. The kidneys regulate intestinal calcium absorption by converting 25-hydroxyvitamin D3 (25[OH]D3) to 1,25 dihydroxyvitamin D3 (1,25 [OH]2D3, calcitriol) by 1-α-hydroxylase, forming the active vitamin D. The suppression of calcitriol may occur as a consequence of CKD, resulting in hyperphosphatemia and stimulation of parathormone (PTH) production, ultimately resulting in hyperparathyroidism (HPT). 3,4 Oral and maxillofacial manifestations of CKD include drifting of teeth, loss of bone density, jaw bone pain, tooth sensitivity, and alterations in dental eruption.…”

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confidence: 99%

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Oral and maxillofacial manifestations of chronic kidney disease–mineral and bone disorder: a multicenter retrospective study

Pontes

Lopes

Souza

et al. 2018

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Oral and maxillofacial manifestations of chronic kidney disease–mineral and bone disorder: a multicenter retrospective study

Pontes

Lopes

Souza

et al. 2018

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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“…Неконтролируемое течение ВГПТ и развившийся синдром Сагликера следует считать показанием к паратиреоидэктомии, которую рекомендуют выполнять без задержек в специализированных центрах [16][17]. Тотальная паратиреоидэктомия является предпочтительной, для избежания персистирования и рецидива заболевания [9,17]. В большинстве случаев хирургическое лечение ВГПТ приводит к нормализации лабораторных показателей, однако сформировавшиеся костные деформации необратимы [1].…”

Section: описание случаяunclassified

Case report of Sagliker syndrome in a young patient with secondary hyperparathyroidism and chronic renal failure

et al. 2019

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Sagliker syndrome is a rare complication of renal osteodystrophy, characterized by severe skeletal and cranium deformities, neurologic and soft tissue abnormalities in patients with chronic renal failure (CRF) and untreated secondary hyperparathyroidism. This article reports a 29-year-old female patient with end-stage CRF after 9 years of hemodialysis. She had severe secondary hyperparathyroidism, hyperplasia of three parathyroid glands and cranium and skeletal bone structure deformation. The first changes appeared after 4 years of therapy with peritoneal dialysis. They included uglifying face appearances, short stature, severe maxillary changes, chest deformity. During the examination we revealed severe tomographical and X-ray changes: maxillary and mandibular hyperplasia, temporomandibular articulation changes, affected cheekbones, sphenoid bone and bones of the cranial vault, fingertip changes, vertebral body compression. Although surgical parathyroidectomy was effective at biochemical abnormalities, severe bone deformities were not regressed. This case highlights the importance of clinicians’ attention for early monitoring and appropriate treatment of secondary hyperparathyroidism in patients with end-stage CRF.

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“…Sagliker syndrome (SS) is a rare condition related to end-stage renal disease (ESRD); it is characterized by a progressively disfiguring facial deformity, dental abnormalities, peripheral neuropathy, and high prevalence of psychiatric comorbidities [ 1 - 3 ]. The disease is thought to be primarily driven by hyperparathyroidism in the setting of ESRD [ 1 , 4 ]. Genes associated with plasma calcium-sensing and bone dysplasia have also been implicated in disease pathogenesis [ 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Perioperative Care and Airway Management for a Patient With Sagliker Syndrome

Chen

Lorenzo

2020

Cureus

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In this report, we present a case of a patient with a history of complex airway anatomy secondary to Sagliker syndrome (SS) who presented with acute exacerbation of chronic respiratory failure. The patient’s difficult airway, complicated medical comorbidities, and poor psychosocial status posed a unique challenge for providing safe care during an emergency. The perioperative anesthesia service (PAS), led by critical care anesthesiologists, coordinated a multidisciplinary airway management plan. The PAS team also assisted this medically complex patient with her decision-making process. A 37-year-old female with SS, which is characterized by irreversible disfiguring of head and neck anatomy secondary to end-stage renal disease (ESRD) and poorly controlled hyperparathyroidism, presented with acute exacerbation of chronic respiratory failure due to hypervolemia. The patient’s respiratory status rapidly deteriorated despite aggressive hemodialysis, requiring transfer to the ICU. Given the challenging anatomy and poor respiratory reserve in this patient, the PAS team helped coordinate a comprehensive airway plan that involved transnasal fiberoptic intubation, and in case of emergency, extracorporeal membrane oxygenation (ECMO) as a bridge to a surgical airway. During the decision-making process, the patient was found to be in psychological distress and had limited insights into her condition. The PAS team helped facilitated multidisciplinary goals-of-care discussions for the patient and her family. Fortunately, the patient’s oxygenation improved with noninvasive oxygen support and aggressive hemodialysis without the need for intubation. She was discharged with outpatient follow-up appointments arranged to discuss long-term management. This is the first reported case of SS in the United States. The early involvement by the PAS team helped coordinate a multidisciplinary care plan for this patient with a difficult airway and complex comorbidities. This report highlights an innovative airway algorithm for a potentially “cannot-intubate, cannot ventilate" complex airway, and the PAS team’s role in providing support for the patient’s physical and psychological needs, suggesting that a comprehensive perioperative service can improve the quality and safety of care, not only for surgical patients but also for medically complex patients as well.

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Clinical status of Sagliker syndrome: a case report and literature review

Cited by 14 publications

References 7 publications

Oral and maxillofacial manifestations of chronic kidney disease–mineral and bone disorder: a multicenter retrospective study

Oral and maxillofacial manifestations of chronic kidney disease–mineral and bone disorder: a multicenter retrospective study

Case report of Sagliker syndrome in a young patient with secondary hyperparathyroidism and chronic renal failure

Perioperative Care and Airway Management for a Patient With Sagliker Syndrome

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