Gene Mutations in Chronic Kidney Disease Patients With Secondary Hyperparathyroidism and Sagliker Syndrome

Sagliker syndrome in a patient with end-stage renal disease with secondary hyperparathyroidism

“…2 SS is exclusively seen in progressive CKD and dialysis-dependent patients, occurring in only 0.5% of the ESRD population and usually in persons under 39 years old. 3,4 Most cases are seen in countries with limited access to CKD and/or dialysis therapy. Commonly the patients develop CKD before puberty, and many patients are unaware of their progression as symptoms slowly compound.…”

“…6 Neurologic manifestations, hearing difficulty, and depression are other frequent symptoms. 3 The universal acceptance of this syndrome is still debated, because many characteristics are extreme manifestations of uncontrolled secondary hyperparathyroidism.…”

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

“…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…”

Síndrome de Sagliker: presentación de dos casos y revisión de la literatura

“…Describieron el caso clínico de una mujer con HPS a la ERC que desarrolló una deformidad facial asociada con leontiasis ósea. Sólo se había informado de dos casos bien caracterizados hasta ese momento en la literatura 10 . Demirhan, et al estudiaron a pacientes y familiares de primer grado de diferentes partes del mundo, incluyendo México.…”