ABSTRACT
Sagliker syndrome (SS) is a rare, exaggerated form of chronic kidney disease (CKD)-mineral and bone disorder resulting from untreated secondary hyperparathyroidism due to CKD. Herein, we describe a 34-year-old male patient whose Tc-99m-methylene diphosphonate bone scintigraphy and Tc-99m-sestamibi parathyroid scintigraphy revealed hints of SS and exhibited its defining characteristics.
Keywords: Sagliker syndrome, renal osteodistrophy, secondary hyperparathyroidism
References
1
Sagliker Y, Balal M, Sagliker Ozkaynak P, Paydas S, Sagliker C, Sabit Sagliker H, Kiralp N, Mumin Adam S, Tuncer I, Gonlusen G, Esenturk M, Gocmez E, Taskapan H, Yeksan M, Kobaner E, Ozkaya O, Yuksekgonul M, Emir I, Cengiz N, Onder Isik I, Bilginer O, Guler T, Yakar H, Sarsmaz N, Dilaver S, Akoglu B, Basgumus M, Chirik E. Sagliker syndrome: uglifying human face appearance in late and severe secondary hyperparathyroidism in chronic renal failure. Semin Nephrol 2004;24:449-455.
2
Cohen J, Diamond I. Leontiasis ossea, slipped epiphyses, and granulosa cell tumor of testis with renal disease; report of a case with autopsy findings. AMA Arch Pathol 1953;56:488-500.
3
Lee VS, Webb MS Jr, Martinez S, McKay CP, Leight GS Jr. Uremic leontiasis ossea: “bighead” disease in humans? Radiologic, clinical, and pathologic features. Radiology 1996;199:233-240.
4
Fisher D, Hiller N, Drukker A. Nephroquiz for the beginner: A swollen face in a girl on haemodialysis. Diagnosis: renal osteodystrophy. Nephrol Dial Transplant 1999;14:1797-1798.
5
Sagliker Y, Acharya V, Ling Z, Golea O, Sabry A, Eyupoglu K, Ookalkar DS, Tapiawala S, Durugkar S, Khetan P, Capusa C, Univar R, Yildiz I, Cengiz K, Bali M, Ozkaynak PS, Sagliker HS, Paylar N, Adam SM, Balal M, Paydas S, Demirhan O, Tasdemir D, Ben Maiz H, Redulescu D, Garneata L, Mircescu G, Hong-Liang R, Lun L, Yildizer K, Emir I, Yuksekgonul M, Yenicerioglu Y, Akar H, Sagliker C, Esenturk M, Kiralp N. International study on Sagliker syndrome and uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic kidney disease patients. J Ren Nutr 2008;18:114-117.
6
Mohebi-Nejad A, Gatmiri SM, Abooturabi SM, Hemayati R, Mahdavi-Mazdeh M. Diagnosis and treatment of Sagliker syndrome: a case series from Iran. Iran J Kidney Dis 2014;8:76-80.
7
Yildiz I, Sagliker Y, Demirhan O, Tunc E, Inandiklioglu N, Tasdemir D, Acharya V, Zhang L, Golea O, Sabry A, Ookalkar DS, Capusa C, Radulescu D, Garneata L, Mircescu G, Ben Maiz H, Chen CH, Prado Rome J, Benzegoutta M, Paylar N, Eyuboglu K, Karatepe E, Esenturk M, Yavascan O, Grzegorzevska A, Shilo V, Mazdeh MM, Francesco RC, Gouda Z, Adam SM, Emir I, Ocal F, Usta E, Kiralp N, Sagliker C, Ozkaynak PS, Sagliker HS, Bassuoni M, Sekin O. International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. J Ren Nutr 2012;22:157-161.
8
Demirhan O, Arslan A, Sagliker Y, Akbal E, Ergun S, Bayraktar R, Sagliker HS, Dogan E, Gunesacar R, Ozkaynak PS. Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome. J Ren Nutr 2015;25:176-186.
