Сочетание сахарного диабета 1-го типа и синдрома Хайду-Ченея

Описан первый в российской популяции случай сочетания сахарного диабета 1-го типа и редкого генетического синдрома Хайду-Ченея, диагностированного у больного 26 лет в дебюте сахарного диабета 1-го типа

сахарный диабет 1-го типа, синдром Хайду-Ченея, остеопороз, акроостеолизис

1. Brennan A.M., Pauli R.M. Hajdu-Cheney syndrome: evolution of phenotype and clinical problems. Am J Med Genet 2001; 100: 4: 292-310.

2. Sahin A., Pepeler M.S., Shimbori N. A patient with acro-osteolysis syndrome: Hajdu-Cheney. Int Med 2010; 49: 1: 87-88.

3. Blumenauer B.T., Cranney A.B., Goldstein R. Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome. Clin Exp Rheumatol 2002; 20: 4: 574-575.

4. Drake W.M., Hiorns M.P., Kendler D.L. Hajdu-Cheney syndrome: response to therapy with bisphosphonates in two patients. J Bone Miner Res 2003; 18: 1: 131-133.

5. McKiernan F.E. Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome. Osteoporos Int 2007; 18: 245-249.

6. Schawo S., Weber M.A., Libicher M. Junge Frau mit Rückenschmerzen und Akroosteolysen. Young woman with back pain and acro-osteolysis. Radiologe 2006; 46: 10: 901-903.

7. Hajdu N., Kauntze R. Cranio-skeletal dysplasia. Br J Radiol 1948; 21: 241: 42-48.

8. Cheney W.D. Acro-osteolysis. Am J Roentgenol Radium Ther Nucl Med 1965; 94: 7: 595-607.

9. Isidor B., Lindenbaum P., Pichon O. et al. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet 2011; 43: 4: 306-308.

10. Kawamura J., Miki Y., Yamazaki S. et al. Hajdu-Cheney syndrome: MR imaging. Neuroradiology 1991; 33: 5: 441-442.

11. Marik I., Kuklik M., Zemkowa D. et al. Hajdu-Cheney syndrome: Report of a family and a short literature review. Austral Radiol 2006; 50: 534-538.

12. Simpson M.A., Irving M.D., Asilmaz E. et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet 2011; 43: 4: 303-305.

13. Currarino G. Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. Pediatr Radiol 2009; 39: 1: 47-52.

14. Di Rocco F., Oi S. Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. J Neurosurg 2005; 103: 2: Suppl: 194-197.