Medicina, Vol. 59 No. 1, 2023.
Studija slučaja
https://doi.org/10.21860/medflum2023_292457
Sagliker Syndrome – A Case Report
Matea Smajić
orcid.org/0000-0001-7448-3349
; Josip Juraj Strossmayer University of Osijek, Faculty of Medicine, Osijek, Croatia
Petra Smajić
orcid.org/0000-0002-7015-713X
; Josip Juraj Strossmayer University of Osijek, Faculty of Medicine, Osijek, Croatia
Lada Zibar
; University Hospital Merkur, Department of Nephrology, Zagreb, Croatia
Sažetak
Aim: To present a case of Sagliker syndrome (SS), a rare syndrome caused by longterm heavy tertiary hyperparathyroidism (HPT) in end-stage renal disease (ESRD). Case report: In the year 2000, the 38-year-old man was diagnosed with ESRD. He is currently of low height, paraplegic, pigeon and barrel chested, with elongated upper extremities, deformed fingers, mandibular and maxillary asymmetric deformities with teeth malformations. Due to extremely high serum parathormone (PTH), resistant to pharmacological treatment, subtotal parathyroidectomy (PTx) was performed in 2007. However, he underwent parathyroid resurgery in 2010 for persistently high PTH of more than 2500 pg/mL (upper normal limit 69). In 2012, imaging found two suspected parathyroid glands and one of them was surgically removed. Postoperatively, the expected decrease in calcium and PTH serum concentrations did not occur. Ten years after the diagnosis of ESRD, the patient began to notice more pronounced skeletal deformities (upper, lower jaw, extremities, deformities of fingers, kyphoscoliosis) along with depressive disorder. Laboratory findings still show extremely high PTH (1994 pg/mL), low calcium, 1.89 mmol/L (normal range 2.14–2.53), and high alkaline phosphatase, 837 U/L (normal range 60–120), despite continuous pharmacological treatment. Conclusion: SS was firstly recognized by Yahya Sagliker in 2004 and it has not been described in Croatia to date. Pervasiveness and knowledge of the syndrome is still poor. The most efficient way of treating/preventing SS is early total PTx in severe secondary HPT related to ESRD. However, it can only stop progress of the disease, but cannot return skeletal deformities.
Ključne riječi
facial asymmetry; hyperparathyroidism; kidney failure, chronic
Hrčak ID:
292457
URI
Datum izdavanja:
1.3.2023.
Posjeta: 567 *