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Гипофосфатазия у детей: проблемы диагностики и перспективы лечения

Аннотация

Представлены новейшие данные по гипофосфатазии у детей. Отражены результаты генетических исследований, вопросы патогенеза, клинических проявлений заболевания, вопросы классификации, лечения и профилактики. Особое внимание обращено на возможности клинических испытаний новых, генно-инженерных средств для патогенетической терапии гипофосфатазии — ферментозаместительной терапии.

Об авторе

П. В. Новиков
Научно-исследовательский клинический институт педиатрии, Москва
Россия


Список литературы

1. Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol 2008; 22: 113-127.

2. Orimo H., Goseki-Sone M., Sato P., Shimada T. Detection of deletion 1154—1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics 1997; 42: 364-366.

3. Rathbun J.C. Hypophosphatasia; a new developmental anomaly. Am J Dis Child 1948; 75: 822-831.

4. Whyte M.P. Hypophosphatasia and the alkaline phosphatase in skeletal mineralization. Endocr Rev 1994; 15: 439—461.

5. Rasmussen H. Hypophosphatasia. In: Stanbury J.B., Wyn-gaarden J.B., Fredrickson D.S. et al. (eds.). The Metabolic Basis of Inherited Disease. 1983; 1497-1507.

6. Bixler D., Poland C, Brandt I.K., Nicholas N.J. Autosomal dominant hypophosphatasia without skeletal disease. Am J Hum Genet 1974; 26: 14A.

7. Greenberg C.R., Evans J.A., McKendy-Smith S. et al. Infantile Hypophosphatasia: localization within chromosome region Ip36.11-34 an prenatal diagnosis using linkage DNA-mar-kers. Amer J Yum Genet 1990; 46: 286-292.

8. Weiss M.J., Ray V., Henthorn PS. et al. Structure of the human liver /boneДidney alkaline phosphatase gene. J Biol Chem 1998; 263: 12002-12010.

9. Chodirker B.N., Evan J.A., Lewis M. et al. Infantile hypophosphatasia — linkage with the RH locus. Genomics 1987; 1: 3: 280-282.

10. Ukarapong S., Ganapathy S.S., Haidet J., Berkovitz G. Childhood Hypophosphatasia with Homozygous Mutation ofALPLGene. Endocr Pract 2014; 6: 1-9.

11. Mornet E. The tissue nonspecific alkaline phosphatase gene mutations database. At htttp://www.sesep.uvsq.fr/03_hypo-mutations.php. (Accessed 12 August 2010).

12. Silvent J., Gasse В., Mornet E., Sire J.Y. Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia. J Biol Chem 2014; 289: 35: 24168-24179.

13. Orimo H., Nakajiama Z., Kijima K. et al. First trimestr prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenatal Diagnosis 1996; 6: 559—563.

14. Henthorn PS., Raducha M., Fedde K.N. et al. Different mu-taions at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 1992; 89: 9924-9928.

15. Mornet E. Hypophosphatasia. Orphanet J Rare Dis 2007; 2: 31 40.

16. McKusick V.A. First South-North Human Genome Conference. Genomics. 1992; 14: 4: 1121-1123.

17. Андреев И. Энзимные нарушения скелета. В кн.: Врож-

18. денные и приобретенные энзимопатии. М1980; 320.

19. Hofmann С, Girschick Н., Mornet E. et al. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet 2014; 22: 10: 1160-1164.

20. Barvencik F.,Beil F.T., Gebauer M. et al. Skeletal mineralization defects in adult hypophosphatasia — a clinical and histo-logical analysis. Osteoporosis Int 2011; 22: 10: 2667—2675.

21. Whyte M.P. Heritable metabolic and dysplastic bone diseases. Endocr Metab ClinNoth Am 1990; 19:133-173.

22. Brun-Heath I., Chabrol E., Fox M. et al. A case of lethal hy-pophspatasia providing new insights into the perinatal benign form hypophosphatasia and expression of the ALPL gene. Clin Genet 2008; 73: 245-250.

23. Whyte M.P. Hypophosphatasia. In: Scriver C.R., Beau-det A.L., Sly W.S., Valle D.(eds.). The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, 1995; 4095-4112.

24. Козлова СИ., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование. М: Практика 1996; 416.

25. Сое J.D., Murphy W.A., Whyte M.P. Management of femoral fractures and pseudofractures in adult hypophosphatasia. J Bone Joint Surg Am 1986; 68: 981-990.

26. Whyte M.P. Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res 2009; 24: 1132-1134.

27. Foster B.L., RamnitzM.S., Gafni R.I. et al. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations. J Dent Res 2014; 93: 7:7S-19S.

28. McKiernan F.E., Berg R.L., Fuehrer J. Clinical and radio-graphic findings in adults with persistent hypophosphatas-emia. J Bone Miner Res 2014; 29: 7: 1651-60.

29. AmlingM., Hahn M., Wening V.J. et al. The microarchitecture of the axis as the predisposing factor for fracture of the base of the odontoid process. A histomorphometric analysis of twenty-two autopsy specimens. JBone Joint Surg Am 1994; 76: 1840-1846.

30. Mohn A., De Leonibus C, de Giorgis T. et al. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr 2011; 100: 7: e43-e46.

31. Whyte M.P. Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci 2010; 1192: 190-200.

32. Whyte M.P, Greenberg C.R., Salman S. et al. Enzyme replacement therapy in life-threatening hypophosphatasia. N Engl JMed2012; 366: 10: 904-913.

33. Ozpno K. Enzyme replacement therapy for hypophosphatasia. Clin Calcium 2014; 24: 2: 257-263.


Рецензия

Для цитирования:


Новиков П.В. Гипофосфатазия у детей: проблемы диагностики и перспективы лечения. Российский вестник перинатологии и педиатрии. 2015;60(1):23-26.

For citation:


Novikov P.V. Hypophosphatasia in children: Diagnostic problems and treatment prospects. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(1):23-26. (In Russ.)

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