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      <title>Újdonságok az X-hez kötött hypophosphataemia diagnózisában és kezelésében</title>
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      <abstractText>Az X-hez kötött hypophosphataemia (XLH) a foszfátanyagcsere veleszületett zavara. Patogenezise összetett, kórfolyamata a foszfáthomeosztázis, illetve a csontanyagcsere összehangolt szabályozási zavarához kötött. Összefoglalónkban áttekintjük a sokszínű manifesztációihoz vezető patofiziológiai sajátosságokat, a diagnosztika lépéseit és a kezelési lehetőségeket. Munkánk aktualitását a Magyarországon most bevezetésre kerülő burosumabkezelés adja, amely egy fibroblastnövekedési faktor-23-hoz (FGF-23) kötődő monoklonális antitest.
Az XLH hátterében a ”phosphate regulating endopeptidase homolog, X-linked” (PHEX) gén funkcióvesztéses mutációi állnak, amely következtében a foszfátvesztést okozó FGF-23 szekréciója fokozódik. Diagnózisa az alábbi tünetegyüttes fennállása esetén állítható fel: rachitis és/vagy osteomalacia, hypophosphataemiával és (izolált) renalis foszfátvesztéssel, ami nem társul D-vitamin- vagy kalciumhiánnyal; továbbá meglassult növekedés, aránytalan törpenövés. Konvencionális kezelése per os foszfátpótlásból és párhuzamosan alkalmazott aktív D-vitaminból (kalcitriol vagy alfadiol) áll, amely javítja a csontanyagcserét, azonban az esetek többségében az elért eredmény csak részleges és mellékhatásokkal (nephrocalcinosis) is számolni kell.
A PHEX gén, majd az FGF-23 szerepének tisztázása kijelölte a kórfolyamat befolyásolására alkalmas terápiás célpontokat. Ezek közül az FGF-23 ellen kifejlesztett
monoklonális antitest terápia hatására a csontanyagcsere normalizálódik a kezelés során, az idejében megkezdett terápiával megelőzhetők az XLH során jelentkező szövődmények. Ugyanakkor a súlyos, mozgáskorlátozottságot okozó csontdeformitások teljes regressziója nem várható. Emiatt fontos, hogy a kezelést minél előbb, még azok kialakulása előtt megkezdjük.</abstractText>
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(2022) HYPERTONIA ÉS NEPHROLOGIA 1418-477X 2498-6259 26 2 77-85</label><template>&lt;div class=&quot;JournalArticle Publication short-list&quot;&gt; &lt;div class=&quot;authors&quot;&gt; &lt;span class=&quot;author-name&quot; mtid=&quot;10000040&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10000040&quot; target=&quot;_blank&quot;&gt;Reusz, György Sándor&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10053036&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10053036&quot; target=&quot;_blank&quot;&gt;Mikes, Bálint&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10068441&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10068441&quot; target=&quot;_blank&quot;&gt;Csizek, Zsófia&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10062502&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10062502&quot; target=&quot;_blank&quot;&gt;Horváth, Orsolya ✉&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; &lt;/div &gt;&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;32849073&quot; mtid=&quot;32849073&quot; target=&quot;_blank&quot;&gt;Újdonságok az X-hez kötött hypophosphataemia diagnózisában és kezelésében&lt;/a&gt;&lt;/div&gt; &lt;div class=&quot;pub-info&quot;&gt; &lt;span class=&quot;journal-title&quot;&gt;HYPERTONIA ÉS NEPHROLOGIA&lt;/span&gt; &lt;span class=&quot;journal-volume&quot;&gt;26&lt;/span&gt; : &lt;span class=&quot;journal-issue&quot;&gt;2&lt;/span&gt; &lt;span class=&quot;page&quot;&gt; pp. 77-85. , 9 p. &lt;/span&gt; &lt;span class=&quot;year&quot;&gt;(2022)&lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;pub-end&quot;&gt;&lt;div class=&quot;identifier-list&quot;&gt; &lt;span class=&quot;identifiers&quot;&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;10.33668/hn.26.009&quot; target=&quot;_blank&quot; href=&quot;https://doi.org/10.33668/hn.26.009&quot;&gt; DOI &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_CLOSED&quot; title=&quot; Zárt &quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;9129&quot; target=&quot;_blank&quot; href=&quot;https://repo.lib.semmelweis.hu/handle/123456789/9129&quot;&gt; SE Repozitórium &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_GREEN&quot; title=&quot; Green &quot;&gt; &lt;a style=&quot;color:black&quot; title=&quot;167906&quot; target=&quot;_blank&quot; href=&quot;http://real.mtak.hu/167906&quot;&gt; REAL &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;https://elitmed.hu/kiadvanyaink/hypertonia-es-nephrologia/ujdonsagok-az-x-hez-kotott-hypophosphataemia-diagnozisaban-es-kezeleseben&quot; target=&quot;_blank&quot; href=&quot;https://elitmed.hu/kiadvanyaink/hypertonia-es-nephrologia/ujdonsagok-az-x-hez-kotott-hypophosphataemia-diagnozisaban-es-kezeleseben&quot;&gt; Egyéb URL &lt;/a&gt; &lt;/span&gt; &lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;short-pub-prop-list&quot;&gt; &lt;span class=&quot;short-pub-mtid&quot;&gt; Közlemény:32849073 &lt;/span&gt; &lt;span class=&quot;status-holder&quot;&gt;&lt;span class=&quot;status-data status-VALIDATED&quot;&gt; Egyeztetett &lt;/span&gt;&lt;/span&gt; &lt;span class=&quot;pub-core&quot;&gt;Forrás &lt;/span&gt; &lt;span class=&quot;pub-type&quot;&gt;Folyóiratcikk (Összefoglaló cikk ) &lt;/span&gt; &lt;!-- &amp;&amp; !record.category.scientific --&gt; &lt;span class=&quot;pub-category&quot;&gt;Tudományos&lt;/span&gt; &lt;/div&gt; &lt;/div&gt; &lt;/div&gt;</template><template2>&lt;div class=&quot;JournalArticle Publication long-list&quot;&gt; &lt;div class=&quot;authors&quot;&gt; &lt;img title=&quot;Forrásközlemény&quot; style=&quot;float: left&quot; src=&quot;/frontend/resources/grid/publication-core-icon.png&quot;&gt; &lt;div class=&quot;autype autype0&quot;&gt; &lt;span class=&quot;author-name&quot; mtid=&quot;10000040&quot;&gt;&lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10000040&quot; target=&quot;_blank&quot;&gt;Reusz György Sándor (&lt;span class=&quot;authorship-author-name&quot;&gt;Reusz György&lt;/span&gt; &lt;span class=&quot;authorAux-mtmt&quot;&gt; Nephrológia&lt;/span&gt;) &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/I. Sz. Gyermekgyógyászati Klinika&lt;/span&gt; ;&amp;nbsp;&amp;nbsp;&amp;nbsp; &lt;span class=&quot;author-name&quot; mtid=&quot;10053036&quot;&gt;&lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10053036&quot; target=&quot;_blank&quot;&gt;Mikes Bálint (&lt;span class=&quot;authorship-author-name&quot;&gt;Mikes Bálint&lt;/span&gt; &lt;span class=&quot;authorAux-mtmt&quot;&gt; immunológia&lt;/span&gt;) &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/I. Sz. Gyermekgyógyászati Klinika&lt;/span&gt; ;&amp;nbsp;&amp;nbsp;&amp;nbsp; &lt;span class=&quot;author-name&quot; mtid=&quot;10068441&quot;&gt;&lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10068441&quot; target=&quot;_blank&quot;&gt;Csizek Zsófia (&lt;span class=&quot;authorship-author-name&quot;&gt;Csizek Zsófia&lt;/span&gt; &lt;span class=&quot;authorAux-mtmt&quot;&gt; Élettan&lt;/span&gt;) &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/I. Sz. Gyermekgyógyászati Klinika&lt;/span&gt; ;&amp;nbsp;&amp;nbsp;&amp;nbsp; &lt;span class=&quot;author-name&quot; mtid=&quot;10062502&quot;&gt;&lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10062502&quot; target=&quot;_blank&quot;&gt;Horváth Orsolya ✉ (&lt;span class=&quot;authorship-author-name&quot;&gt;Horváth Orsolya&lt;/span&gt; &lt;span class=&quot;authorAux-mtmt&quot;&gt; Gyermekgyógyászat&lt;/span&gt;) &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/I. Sz. Gyermekgyógyászati Klinika&lt;/span&gt; &lt;/div&gt; &lt;/div&gt; &lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;32849073&quot; target=&quot;_blank&quot;&gt;Újdonságok az X-hez kötött hypophosphataemia diagnózisában és kezelésében&lt;/a&gt;&lt;/div&gt; &lt;div&gt; &lt;span class=&quot;journal-title&quot;&gt;HYPERTONIA ÉS NEPHROLOGIA&lt;/span&gt; &lt;span class=&quot;journal-issn&quot;&gt;(&lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/1418-477X&quot;&gt;1418-477X&lt;/a&gt; &lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/2498-6259&quot;&gt;2498-6259&lt;/a&gt;)&lt;/span&gt;: &lt;span class=&quot;journal-volume&quot;&gt;26&lt;/span&gt; &lt;span class=&quot;journal-issue&quot;&gt;2&lt;/span&gt; &lt;span class=&quot;page&quot;&gt; pp 77-85 &lt;/span&gt; &lt;span class=&quot;year&quot;&gt;(2022)&lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;pub-footer&quot;&gt; &lt;span class=&quot;language&quot; xmlns=&quot;http://www.w3.org/1999/html&quot;&gt;Nyelv: Magyar | &lt;/span&gt; &lt;span class=&quot;identifiers&quot;&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;10.33668/hn.26.009&quot; target=&quot;_blank&quot; href=&quot;https://doi.org/10.33668/hn.26.009&quot;&gt; DOI &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_CLOSED&quot; title=&quot; Zárt &quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;9129&quot; target=&quot;_blank&quot; href=&quot;https://repo.lib.semmelweis.hu/handle/123456789/9129&quot;&gt; SE Repozitórium &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_GREEN&quot; title=&quot; Green &quot;&gt; &lt;a style=&quot;color:black&quot; title=&quot;167906&quot; target=&quot;_blank&quot; href=&quot;http://real.mtak.hu/167906&quot;&gt; REAL &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;https://elitmed.hu/kiadvanyaink/hypertonia-es-nephrologia/ujdonsagok-az-x-hez-kotott-hypophosphataemia-diagnozisaban-es-kezeleseben&quot; target=&quot;_blank&quot; href=&quot;https://elitmed.hu/kiadvanyaink/hypertonia-es-nephrologia/ujdonsagok-az-x-hez-kotott-hypophosphataemia-diagnozisaban-es-kezeleseben&quot;&gt; Egyéb URL &lt;/a&gt; &lt;/span&gt; &lt;/span&gt; &lt;div class=&quot;mtid&quot;&gt;&lt;span class=&quot;long-pub-mtid&quot;&gt;Közlemény: 32849073&lt;/span&gt; | &lt;span class=&quot;status-data status-VALIDATED&quot;&gt; Egyeztetett &lt;/span&gt; Forrás | &lt;span class=&quot;type-subtype&quot;&gt;Folyóiratcikk ( Összefoglaló cikk ) &lt;/span&gt; | &lt;span class=&quot;pub-category&quot;&gt;Tudományos&lt;/span&gt; | &lt;span class=&quot;publication-sourceOfData&quot;&gt;kézi felvitel&lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;special-affiliations&quot;&gt; Speciális affiliáció: Hypertonia és Nephrologia szerkesztősége &lt;/div&gt; &lt;div class=&quot;lastModified&quot;&gt;Utolsó módosítás: 2023.09.03. 07:48 Milánkovics Róbert (PTE ÁOK admin 4) &lt;/div&gt; &lt;/div&gt;&lt;/div&gt;</template2>
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