<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">nefr</journal-id><journal-title-group><journal-title xml:lang="ru">Нефрология</journal-title><trans-title-group xml:lang="en"><trans-title>Nephrology (Saint-Petersburg)</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1561-6274</issn><issn pub-type="epub">2541-9439</issn><publisher><publisher-name>Pavlov First Saint-Petersburg State Medical University</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.24884/1561-6274-2011-15-4-62-69</article-id><article-id custom-type="elpub" pub-id-type="custom">nefr-662</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ЖУРНАЛ В ЖУРНАЛЕ (АКТУАЛЬНЫЕ ПРОБЛЕМЫ УРОЛОГИИ, ВОПРОСЫ ПЕДИАТРИЧЕСКОЙ НЕФРОЛОГИИ, ГЕРИАТРИЧЕСКОЙ НЕФРОЛОГИИ)</subject></subj-group></article-categories><title-group><article-title>ГИПОФОСФАТЕМИЧЕСКИЙ РАХИТ, ОБУСЛОВЛЕННЫЙ НАРУШЕНИЕМ ПОЧЕЧНОЙ КАНАЛЬЦЕВОЙ РЕАБСОРБЦИИ ФОСФАТОВ У ДЕТЕЙ</article-title><trans-title-group xml:lang="en"><trans-title>HYPOPHOSPHАTHEMIC RICKETS ASSOCIATED WITH RENAL TUBULAR PHOSPHATE REABSORPTION</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>САВЕНКОВА</surname><given-names>Н. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>SAVENKOVA</surname><given-names>N. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра факультетской педиатрии</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>МУСАЕВА</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>MUSAEVA</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра факультетской педиатрии</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>ЛЕВИАШВИЛИ</surname><given-names>Ж. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>LEVIASHVILI</surname><given-names>G. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра факультетской педиатрии</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff xml:lang="ru" id="aff-1"><institution>Санкт-Петербургская государственная педиатрическая медицинская академия</institution><country>Russian Federation</country></aff><pub-date pub-type="collection"><year>2011</year></pub-date><pub-date pub-type="epub"><day>10</day><month>04</month><year>2011</year></pub-date><volume>15</volume><issue>4</issue><fpage>62</fpage><lpage>69</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; САВЕНКОВА Н.Д., МУСАЕВА А.В., ЛЕВИАШВИЛИ Ж.Г., 2011</copyright-statement><copyright-year>2011</copyright-year><copyright-holder xml:lang="ru">САВЕНКОВА Н.Д., МУСАЕВА А.В., ЛЕВИАШВИЛИ Ж.Г.</copyright-holder><copyright-holder xml:lang="en">SAVENKOVA N.D., MUSAEVA A.V., LEVIASHVILI G.G.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://journal.nephrolog.ru/jour/article/view/662">https://journal.nephrolog.ru/jour/article/view/662</self-uri><abstract><p>Данный обзор обобщает современные представления о генетике, механизмах развития, клинике, диагностике и лечении гипофосфатемического рахита, обусловленного нарушением почечной канальцевой реабсорбции фосфатов у детей</p></abstract><trans-abstract xml:lang="en"><p>This review is a conclusion of up-to-date conceptions about genetics, development mechanisms, clinical picture, diagnostics and treatment of hypophosphathemic rickets determined by renal tubular phosphate reabsorption impairment</p></trans-abstract><kwd-group xml:lang="ru"><kwd>гипофосфатемический рахит</kwd><kwd>почечная канальцевая реабсорбция фосфатов</kwd><kwd>дети</kwd></kwd-group><kwd-group xml:lang="en"><kwd>hypophosphathemic rickets</kwd><kwd>renal tubular phosphate reabsorption children</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Наточин Ю.В. Клиническая физиология почек у детей. В: Папаян А.В., Савенкова Н.Д, ред. Клиническая нефрология детского возраста. Левша. Санкт-Петербург, СПб., 2008; 19-56</mixed-citation><mixed-citation xml:lang="en">Наточин Ю.В. Клиническая физиология почек у детей. В: Папаян А.В., Савенкова Н.Д, ред. Клиническая нефрология детского возраста. Левша. Санкт-Петербург, СПб., 2008; 19-56</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Bastepe M., Jupper H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metabol Disord 2008 9: 171-180</mixed-citation><mixed-citation xml:lang="en">Bastepe M., Jupper H. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. Rev Endocr Metabol Disord 2008 9: 171-180</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Portale A., Perwad F. Homeostasis сalcium and phosphorus. In Avner E., Harmon W., Niauted P., Yoshikama N., eds. Pediatric Nephrology. Springer, 2009, Vol 1; 205-265</mixed-citation><mixed-citation xml:lang="en">Portale A., Perwad F. Homeostasis сalcium and phosphorus. In Avner E., Harmon W., Niauted P., Yoshikama N., eds. Pediatric Nephrology. Springer, 2009, Vol 1; 205-265</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Bianchetti M. Bettinelli A. Differential diagnosis and management of fluid, electrolyte, and acid -base disorders. In Geary DF., Schaefer F., eds. Comprehensive Pediatric Nephrology. MOSBY 2008; 395-431</mixed-citation><mixed-citation xml:lang="en">Bianchetti M. Bettinelli A. Differential diagnosis and management of fluid, electrolyte, and acid -base disorders. In Geary DF., Schaefer F., eds. Comprehensive Pediatric Nephrology. MOSBY 2008; 395-431</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Popovtzen M. Disorders of cаlcium, phosporus, vitamin D and paratireoid hormone activity. In Schrier R.W., ed. Renal and Electrolite Disorders. Wolters Kluwer. Lippincoot Williams.Wilkins, 2010; 166-228</mixed-citation><mixed-citation xml:lang="en">Popovtzen M. Disorders of cаlcium, phosporus, vitamin D and paratireoid hormone activity. In Schrier R.W., ed. Renal and Electrolite Disorders. Wolters Kluwer. Lippincoot Williams.Wilkins, 2010; 166-228</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Wagner С.А., Hernando N., Forster I.C. et al. Genetic defects in renal phosphate handing. In Lifton R.P., Gibisch G.H., Somlo S., Seldin D.W., eds. Genetic Diseases of the Kidney. 2009; 715-734</mixed-citation><mixed-citation xml:lang="en">Wagner С.А., Hernando N., Forster I.C. et al. Genetic defects in renal phosphate handing. In Lifton R.P., Gibisch G.H., Somlo S., Seldin D.W., eds. Genetic Diseases of the Kidney. 2009; 715-734</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Brodehl J. Assesstment and interpretation of the tubular threshold for phosphate in infantsand children. Pediatr Nephrol 1994; 8: 645</mixed-citation><mixed-citation xml:lang="en">Brodehl J. Assesstment and interpretation of the tubular threshold for phosphate in infantsand children. Pediatr Nephrol 1994; 8: 645</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Bai X., Miao D., Li J., Goltzman D., Karaplis A.C. Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology 2004; 145: 52695279</mixed-citation><mixed-citation xml:lang="en">Bai X., Miao D., Li J., Goltzman D., Karaplis A.C. Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology 2004; 145: 52695279</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Bacconi A., Virkki L.V., Biber J., Murer H., Forster L.C. Renouncing electroneutrality is not free of charge: switching on electro-genicity in a Na+-coupled phosphate cotransporter. Proc Natl Acad Sci USA 2005; 102: 12606-12611</mixed-citation><mixed-citation xml:lang="en">Bacconi A., Virkki L.V., Biber J., Murer H., Forster L.C. Renouncing electroneutrality is not free of charge: switching on electro-genicity in a Na+-coupled phosphate cotransporter. Proc Natl Acad Sci USA 2005; 102: 12606-12611</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Bachmann S., Schlichting U., Geist B. et al. Kidney-specific inactivation of the megalin gene impairs trafficking of renal inorganic sodium phosphate cotransporter (NaPi-IIa). J. Am Soc Nephrol 2004; 15: 892-900</mixed-citation><mixed-citation xml:lang="en">Bachmann S., Schlichting U., Geist B. et al. Kidney-specific inactivation of the megalin gene impairs trafficking of renal inorganic sodium phosphate cotransporter (NaPi-IIa). J. Am Soc Nephrol 2004; 15: 892-900</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Sharma A., Thakker R., Jupnerr H. Genetic disorders of calcium and phosphate homeostasis. In Avner E., Harmon W., Niauted P., Yoshikama N., eds. Pediatric Nephrology. Springer, 2009, Vol 1; 267-305</mixed-citation><mixed-citation xml:lang="en">Sharma A., Thakker R., Jupnerr H. Genetic disorders of calcium and phosphate homeostasis. In Avner E., Harmon W., Niauted P., Yoshikama N., eds. Pediatric Nephrology. Springer, 2009, Vol 1; 267-305</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Berndt T., Berndt T.J., Bielesz B. et al. Secreted frizzled-related protein-4 reduces sodium-phosphate co-transporter abundance and activity in proximal tubule cells. Pflugers Arch 2006; 451: 579-587</mixed-citation><mixed-citation xml:lang="en">Berndt T., Berndt T.J., Bielesz B. et al. Secreted frizzled-related protein-4 reduces sodium-phosphate co-transporter abundance and activity in proximal tubule cells. Pflugers Arch 2006; 451: 579-587</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Zivicnjak M., Schnabel D., Billing H. et al. Age -related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol 2011; 26: 223-231</mixed-citation><mixed-citation xml:lang="en">Zivicnjak M., Schnabel D., Billing H. et al. Age -related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol 2011; 26: 223-231</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Rodriges-Soriano J. Renal tubular acidosis: the clinical etity. J. Am Soc Nephrol 2002; 13: 2160-2170</mixed-citation><mixed-citation xml:lang="en">Rodriges-Soriano J. Renal tubular acidosis: the clinical etity. J. Am Soc Nephrol 2002; 13: 2160-2170</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Seikaly M.G., Baum M. Stimulation of growth hormone secretion in children with X-linked hypophosphatemia. Pediatr Nephrol 1995; 9: 751 -752</mixed-citation><mixed-citation xml:lang="en">Seikaly M.G., Baum M. Stimulation of growth hormone secretion in children with X-linked hypophosphatemia. Pediatr Nephrol 1995; 9: 751 -752</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Consortium Consortium ADHR: Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF23. Nature Genet 2000; 26: 345-348</mixed-citation><mixed-citation xml:lang="en">Consortium Consortium ADHR: Autosomal dominant hypophosphatemic rickets is associated with mutations in FGF23. Nature Genet 2000; 26: 345-348</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Econs M.J., McEnery P.T., Lennon F., Speer M.C. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J. Clin Invest 1997; 100: 2653-2657</mixed-citation><mixed-citation xml:lang="en">Econs M.J., McEnery P.T., Lennon F., Speer M.C. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J. Clin Invest 1997; 100: 2653-2657</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Bergwitz C., Roslin N., Tieder M. et al. SLC 34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaP(i) in maintaining phosphate homeostasis. Am J. Hum Genet 2006; 78: 179-192</mixed-citation><mixed-citation xml:lang="en">Bergwitz C., Roslin N., Tieder M. et al. SLC 34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaP(i) in maintaining phosphate homeostasis. Am J. Hum Genet 2006; 78: 179-192</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Lorenz-Depiereux B., Benet-Pages A., Eckstein G. et al.: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J. Hum Genet 2006; 78: 193-201</mixed-citation><mixed-citation xml:lang="en">Lorenz-Depiereux B., Benet-Pages A., Eckstein G. et al.: Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J. Hum Genet 2006; 78: 193-201</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Tieder M., Modai D., Samuel R. et al. Hereditary hypophosphatemic rickets with hypercalciuria: N Engl J. Med 1985; 312: 611-617</mixed-citation><mixed-citation xml:lang="en">Tieder M., Modai D., Samuel R. et al. Hereditary hypophosphatemic rickets with hypercalciuria: N Engl J. Med 1985; 312: 611-617</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Sermet-Gaudelus I., Garabedian M., Dechaux M. et al. Hereditary hypophosphatemic rickets with hypercalciuria: report of new kindred. Nephron 2001; 88: 83-86</mixed-citation><mixed-citation xml:lang="en">Sermet-Gaudelus I., Garabedian M., Dechaux M. et al. Hereditary hypophosphatemic rickets with hypercalciuria: report of new kindred. Nephron 2001; 88: 83-86</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Tieder M., Arie R., Bab I. et al. A new kindred with hereditary hypophosphatemic rickets with hypercalciuria implications for correct diagnosis and treatment. Nephron 1992; 62: 176-181</mixed-citation><mixed-citation xml:lang="en">Tieder M., Arie R., Bab I. et al. A new kindred with hereditary hypophosphatemic rickets with hypercalciuria implications for correct diagnosis and treatment. Nephron 1992; 62: 176-181</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Rowe P.S., de Zoysa P.A., Dong R. et al. MEPE., a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000; 67: 54-68</mixed-citation><mixed-citation xml:lang="en">Rowe P.S., de Zoysa P.A., Dong R. et al. MEPE., a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000; 67: 54-68</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Rowe P.S., Kumagai Y., Gutierrez G. et al. MEPE has properties of an osteoblastic phosphatonin and minhibin. Bone 2004; 34: 303-319</mixed-citation><mixed-citation xml:lang="en">Rowe P.S., Kumagai Y., Gutierrez G. et al. MEPE has properties of an osteoblastic phosphatonin and minhibin. Bone 2004; 34: 303-319</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">White К.Е., Cabral J.M., Davis S.I. et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J. Hum Genet 2005; 76: 361-367</mixed-citation><mixed-citation xml:lang="en">White К.Е., Cabral J.M., Davis S.I. et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J. Hum Genet 2005; 76: 361-367</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Rasmussen H., Pecher M., Anast C. et al. Long-term treatment of familial hypophophatemic rickets with oral phosphate and 1-alpha-hydroxivitamin D3. J. Pediatr 1981; 99: 16-25</mixed-citation><mixed-citation xml:lang="en">Rasmussen H., Pecher M., Anast C. et al. Long-term treatment of familial hypophophatemic rickets with oral phosphate and 1-alpha-hydroxivitamin D3. J. Pediatr 1981; 99: 16-25</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Новиков П.В. Рахит и наследственные рахитоподобные заболевания у детей. Москва-Триада-X., 2006; 194-223</mixed-citation><mixed-citation xml:lang="en">Новиков П.В. Рахит и наследственные рахитоподобные заболевания у детей. Москва-Триада-X., 2006; 194-223</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Савенкова Н.Д., Папаян А.В., Левиашвили Ж.Г. Гипофосфатемический рахит. В Тубулопатии в практике педиатра. Руководство для врачей. «Левша. Санкт-Петербург», СПб., 2006: 33-40</mixed-citation><mixed-citation xml:lang="en">Савенкова Н.Д., Папаян А.В., Левиашвили Ж.Г. Гипофосфатемический рахит. В Тубулопатии в практике педиатра. Руководство для врачей. «Левша. Санкт-Петербург», СПб., 2006: 33-40</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Савенкова Н.Д., Папаян А.В., Левиашвили Ж.Г., Мусаева А.В. Гипофосфатемический рахит -фосфат-диабет. В Клиническая нефрология детского возраста. «Левша. Санкт-Петербург», СПб., 2008; 204-207</mixed-citation><mixed-citation xml:lang="en">Савенкова Н.Д., Папаян А.В., Левиашвили Ж.Г., Мусаева А.В. Гипофосфатемический рахит -фосфат-диабет. В Клиническая нефрология детского возраста. «Левша. Санкт-Петербург», СПб., 2008; 204-207</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Seikaly M.G., Brown R., Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics 1997; 100: 879-884</mixed-citation><mixed-citation xml:lang="en">Seikaly M.G., Brown R., Baum M. The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. Pediatrics 1997; 100: 879-884</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
