Sagliker Syndrome (A clinical observation)
Abstract
A clinical case is described: a Sagliker syndrome patient with a severe secondary hyperparathyroidism and congenital anomalies of the urinary tracts which led to the end stage renal disease and subsequent hemodialysis therapy for 6 year follow-up.
About the Authors
O. N. Vetchinnikova
M.F. Vladimirsky Moscow Regional Clinical and Research Institute
Russian Federation
Russian Federation
S. A. Kulibaba
M.F. Vladimirsky Moscow Regional Clinical and Research Institute
Russian Federation
Russian Federation
L. B. Denisova
M.F. Vladimirsky Moscow Regional Clinical and Research Institute
Russian Federation
Russian Federation
A. B. Zulkarnaev
M.F. Vladimirsky Moscow Regional Clinical and Research Institute
Russian Federation
Russian Federation
K. A. Patyukov
M.F. Vladimirsky Moscow Regional Clinical and Research Institute
Russian Federation
Russian Federation
References
1. Лейсле А.К., Мошнегуц С.В., Ушаков А.В. Костный леонтиаз: клиническое наблюдение и обзор литературы // Медицинская визуализация. 2011. № 2. C. 65 – 67.
2. Armold A., Brown M. F., Urena P. et al. Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia // J Clin Invest. 1995. Vol. 95. P. 2047 – 2053.
3. Chang J.I., Som P.M., Lawson W. Unique imaging findings in the facial bones of renal osteodystrophy // Am J Neuroradiol. 2007. Vol. 28. P. 608 – 609.
4. Dantas M., Costa R.S., Jorgetti V., et al. Facial leontiasis ossea: a rare presentation of hyperparathyroidism secondary to chronic renal insufficiency // Nephron. 1991. Vol. 58. P. 475–478.
5. Erkan A.N., Sagliker Y., Yildiz I., Ozluoglu L. Audiological findings in chronic kidney disease patients with Sagliker syndrome // J Ren Nutr. 2010. Vol. 20 (suppl 5). S56 – S58.
6. Ferrario V.F., Sforza C., Dellavia C. Facial changes in adult uremic patients on chronic dialysis: possible role of hyperparathyroidism // Int J Artif Organs. 2005. Vol. 28. P. 797 – 802.
7. Fukagawa M. Cell biology of parathyroid hyperplasia in uremia // Am J Med. Sci. 1999. Vol. 317. P. 377 – 382.
8. Giray S., Sagliker Y., Yildiz I., et al. Neurologic manifestations in Sagliker syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients // J Ren Nutr. 2006. Vol. 16. P. 233 – 236.
9. Grzegorzewska A.E., Kaczmarek-Leki V. A case of severe long-term secondary hyperparathyroidism (Sagliker syndrome) in a patient treated with intermittent hemodialysis // Nefrologia i Dializoterapia Polska. 2011. Vol. 15. P. 57 – 60.
10. Ozenli Y., Giray S., Saglıker Y., Adam S.M. A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome // J Ren Nutr. 2010. Vol. 20 (suppl 5). S51 – S55.
11. Sagliker Y., Acharya V., Golea O. et al. Is survival enough for quality of life in Sagliker Syndrome—uglifying human face appearances in chronic kidney disease? // J Nephrol. 2008. Vol. 21 (suppl 13). S 134 – S 138.
12. Sagliker Y., Acharya V., Ling Z. et al. International study on Sagliker syndrome and uglifying the human face of visibility in the heavy and late secondary hyperparathyroidism in chronic kidney disease patients // J Renal Nutr. 2008. Vol. 18. P. 114 – 117.
13. Sagliker Y, Balal М, Sagliker Ozkaynak P. et al. Sagliker syndrome: uglifying human face, look in the end and severe secondary hyperparathyroidism in chronic renal failure // Semin Nephrol. 2004. Vol. 24 (5). P. 449 – 455.
14. Salem M. hyperparathyroidism in the hemodialysis population: a survey of 612 patients // Am J Kidney Dis. 1997. Vol. 29. P. 862 – 685.
15. Slatopolsky E., Brown A., Dusso A. Pathogenesis of secondary hyperparathyroidism // Kidney Int. 2005. Vol. 56 (Suppl. 73). S 14 –S 19.
16. Uzel A., Uzel I., Sagliker Y., et al. Cephalometric evaluation of patients with Sagliker Syndrome: uglifying human face appearance in severe and late secondary hyperparathyroidism in chronic renal failure patients // J Renal Nutr. 2006. Vol. 16. P. 229 – 232.
17. Yildiz I., Sagliker Y., Demirhan O. et al. 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. Vol. 22 (1). P. 157 – 161.
Review
For citations:
Vetchinnikova O.N., Kulibaba S.A., Denisova L.B., Zulkarnaev A.B., Patyukov K.A. Sagliker Syndrome (A clinical observation). Nephrology and Dialysis. 2013;15(2):152-158. (In Russ.)
Views:
30
Email this article 