Case report: Sagliker syndrome in the patient with recurrent tertiary hyperparathyroidism due to intrathyroidal parathyroid carcinoma

Salimkhanov, R.; Bondarenko, E.; Eremkina, A.; Bibik, E.; Kim, E.; Begova, K.; Kim, I.; Kuznetsov, S.; Mokrysheva, N.

Авторы: Salimkhanov Rustam, Bondarenko Ekaterina, Eremkina Anna, Bibik Ekaterina, Kim Ekaterina, Begova Kamila, Kim Ilya, Kuznetsov Sergey, Mokrysheva Natalia
Журнал: Frontiers in endocrinology
Том: 14
Год издания: 2024
Издательство: Frontiers Research Foundation]
Местоположение издательства: [Lausanne, Switzerland
DOI: 10.3389/fendo.2023.1292993
Аннотация: Sagliker syndrome (SS) is an extremely rare disorder that manifests in patients with advanced chronic kidney disease (CKD) undergoing programmed hemodialysis as a renal replacement therapy. Treatment of secondary hyperparathyroidism (SHPT) in these patients is still challenging. The main clinical manifestations of SS include craniofacial and fingertip deformities, dental anomalies, gingival hyperplasia, short stature, hearing loss, neurological and psychiatric impairment. The etiology and pathogenesis of SS in patients with SHPT require further clarification. However, mutations in the GNAS1, FGF23, and FGFR3 genes were described in some patients, suggesting a possible role of genetic predisposition to the syndrome. The preferred therapeutic approach for SS is surgery, but the volume of the operation is debated. The main surgical strategies include total, subtotal parathyroidectomy, or total parathyroidectomy with autotransplantation of the parathyroid gland (PG). Unfortunately, parathyroidectomy does not contribute to the regression of significant skeletal deformities. We present a unique clinical case of a patient with classical features of SS, recurrent tertiary hyperparathyroidism (THPT) after total parathyroidectomy due to intrathyroidal parathyroid carcinoma (PC).
Добавил в систему: Салимханов Рустам Халилович

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Case report: Sagliker syndrome in the patient with recurrent tertiary hyperparathyroidism due to intrathyroidal parathyroid carcinomaстатья

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