{"id":144768,"date":"2026-11-03T13:13:13","date_gmt":"2026-11-03T11:13:13","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/hipercalcemie-hipocalciurica-familiala-fhh-ngs-gene-casr-gna11-ap2s1\/"},"modified":"2026-11-03T13:13:13","modified_gmt":"2026-11-03T11:13:13","slug":"hipercalcemie-hipocalciurica-familiala-fhh-ngs-gene-casr-gna11-ap2s1","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/hipercalcemie-hipocalciurica-familiala-fhh-ngs-gene-casr-gna11-ap2s1\/","title":{"rendered":"Hipercalcemie hipocalciuric\u0103 familial\u0103 (FHH) (NGS gene CASR, GNA11, AP2S1)"},"content":{"rendered":"<p><span style=\"color: #ff9900\"><strong>1. Descriere general\u0103<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">FHH este o tulburare genetic\u0103 a regl\u0103rii concentra\u021biei calciului seric. \u00cen mod fiziologic, receptorul sensibil la calciu (CaSR) detecteaz\u0103 concentra\u021bia extracelular\u0103 a calciului \u0219i contribuie la reglarea secre\u021biei de PTH \u0219i a excre\u021biei renale de calciu.<\/span><\/p>\n<p><span style=\"color: #212529\">Modific\u0103rile genetice ale genelor implicate \u00een calea receptorului sensibil la calciu (CaSR) determin\u0103 o reducere a sensibilit\u0103\u021bii celulelor paratiroidiene \u0219i renale la concentra\u021bia extracelular\u0103 a calciului. Ca urmare, organismul poate \u201epercepe\u201d concentra\u021bia calciului ca fiind mai mic\u0103 dec\u00e2t valoarea sa real\u0103, ceea ce conduce la men\u021binerea unui nivel crescut al calciului seric \u0219i la reducerea excre\u021biei urinare de calciu.<\/span><\/p>\n<p><span style=\"color: #212529\">FHH este de regul\u0103 o afec\u021biune cu evolu\u021bie benign\u0103 \u0219i este frecvent transmis\u0103 autozomal dominant.<\/span><\/p>\n<p><span style=\"color: #212529\">Identificarea unei variante genetice relevante poate confirma etiologia ereditar\u0103 \u0219i poate avea importan\u021b\u0103 pentru diferen\u021bierea FHH de alte cauze de hipercalcemie, \u00een special hiperparatiroidismul primar.<\/span><\/p>\n<p><span style=\"color: #ff9900\"><strong>2. Parametrii analiza\u021bi<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">Testarea molecular\u0103 include analiza urm\u0103toarelor gene:<\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">CASR &#8211; calcium-sensing receptor; codific\u0103 receptorul sensibil la calciu, component\u0103 central\u0103 a sistemului de reglare a homeostaziei calciului;<\/span><\/li>\n<li><span style=\"color: #212529\">GNA11 &#8211; codific\u0103 subunitatea G\u03b111 implicat\u0103 \u00een transmiterea semnalului receptorului sensibil la calciu;<\/span><\/li>\n<li><span style=\"color: #212529\">AP2S1 &#8211; codific\u0103 subunitatea \u03c32 a complexului adaptor AP-2, implicat \u00een internalizarea \u0219i traficul receptorului sensibil la calciu.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #212529\">Panelul permite identificarea variantelor genetice patogene sau probabil patogene asociate cu:<\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">FHH tip 1 \u2013 CASR;<\/span><\/li>\n<li><span style=\"color: #212529\">FHH tip 2 \u2013 GNA11;<\/span><\/li>\n<li><span style=\"color: #212529\">FHH tip 3 \u2013 AP2S1.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff9900\"><strong>3. Afec\u021biuni sau simptome asociate<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">Testarea genetic\u0103 poate fi indicat\u0103 \u00een contextul:<\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">hipercalcemiei persistente sau recurente;<\/span><\/li>\n<li><span style=\"color: #212529\">hipercalcemiei asociate cu calciurie redus\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">suspiciunii de FHH pe baza raportului clearance-ului calciu\/creatinin\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">PTH normal sau moderat crescut \u00een contextul hipercalcemiei;<\/span><\/li>\n<li><span style=\"color: #212529\">suspiciunii de hiperparatiroidism primar versus FHH;<\/span><\/li>\n<li><span style=\"color: #212529\">hipercalcemiei descoperite incidental, f\u0103r\u0103 o cauz\u0103 evident\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">istoricului familial de hipercalcemie;<\/span><\/li>\n<li><span style=\"color: #212529\">identific\u0103rii unor membri ai familiei cu hipercalcemie asimptomatic\u0103 sau persistent\u0103.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #212529\">\u00cen general, FHH este asimptomatic\u0103. Unele persoane pot prezenta manifest\u0103ri nespecifice, precum oboseal\u0103, sl\u0103biciune sau simptome gastrointestinale, \u00eens\u0103 acestea nu sunt specifice FHH.<\/span><\/p>\n<p><span style=\"color: #ff9900\"><strong>4. Cui se adreseaz\u0103<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">Testarea este adresat\u0103 \u00een special pacien\u021bilor cu:<\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">hipercalcemie persistent\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">hipercalcemie cu excre\u021bie urinar\u0103 redus\u0103 a calciului;<\/span><\/li>\n<li><span style=\"color: #212529\">suspiciune clinic\u0103 \u0219i biochimic\u0103 de FHH;<\/span><\/li>\n<li><span style=\"color: #212529\">diagnostic diferen\u021bial FHH versus hiperparatiroidism primar;<\/span><\/li>\n<li><span style=\"color: #212529\">istoric familial sugestiv pentru FHH;<\/span><\/li>\n<li><span style=\"color: #212529\">rezultat biochimic neclar \u00een evaluarea metabolismului fosfo-calcic.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #212529\">Testarea poate fi util\u0103 \u0219i pentru membrii familiei unui pacient la care a fost identificat\u0103 o variant\u0103 patogen\u0103\/probabil patogen\u0103 relevant\u0103, \u00een cadrul evalu\u0103rii genetice familiale.<\/span><\/p>\n<p><span style=\"color: #ff9900\"><strong>5. Metodologie de testare<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">Analiza se realizeaz\u0103 prin secven\u021biere de nou\u0103 genera\u021bie (NGS \u2013 Next Generation Sequencing).<\/span><\/p>\n<p><span style=\"color: #212529\">Variantele identificate sunt clasificate conform ghidurilor interna\u021bionale aplicabile.<\/span><\/p>\n<p><span style=\"color: #ff9900\"><strong>6. Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">Testarea genetic\u0103 poate contribui la:<\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">confirmarea molecular\u0103 a diagnosticului de FHH;<\/span><\/li>\n<li><span style=\"color: #212529\">identificarea formei genetice asociate genei CASR, GNA11 sau AP2S1;<\/span><\/li>\n<li><span style=\"color: #212529\">diferen\u021bierea unei forme ereditare de alte cauze de hipercalcemie;<\/span><\/li>\n<li><span style=\"color: #212529\">evitarea unor interven\u021bii terapeutice inutile atunci c\u00e2nd tabloul este compatibil cu FHH;<\/span><\/li>\n<li><span style=\"color: #212529\">clarificarea cazurilor cu diagnostic biochimic neconcludent;<\/span><\/li>\n<li><span style=\"color: #212529\">identificarea persoanelor afectate \u00een cadrul unei familii;<\/span><\/li>\n<li><span style=\"color: #212529\">stabilirea riscului de transmitere familial\u0103.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff9900\"><strong>7. Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">Un rezultat genetic negativ nu exclude complet FHH, deoarece pot exista variante genetice nedetectabile prin metoda utilizat\u0103 sau forme genetice asociate altor mecanisme.<\/span><\/li>\n<li><span style=\"color: #212529\">Diagnosticul trebuie corelat cu datele clinice \u0219i biochimice.<\/span><\/li>\n<li><span style=\"color: #212529\">Hipercalcemia hipocalciuric\u0103 poate avea \u0219i cauze non-genetice.<\/span><\/li>\n<li><span style=\"color: #212529\">Identificarea unei variante cu semnifica\u021bie incert\u0103 (VUS \u2013 Variant of Uncertain Significance) poate necesita interpretare suplimentar\u0103.<\/span><\/li>\n<li><span style=\"color: #212529\">Rezultatele trebuie interpretate \u00een contextul fenotipului \u0219i al istoricului familial.<\/span><\/li>\n<li><span style=\"color: #212529\">\u00cen cazul identific\u0103rii unei variante relevante, se recomand\u0103 consiliere genetic\u0103 \u0219i, atunci c\u00e2nd este indicat, testarea \u021bintit\u0103 a rudelor.<\/span><\/li>\n<li><span style=\"color: #212529\">Un rezultat pozitiv nu trebuie interpretat separat de profilul biochimic al metabolismului calciului.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff9900\"><strong>8. Tip prob\u0103<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">S\u00e2nge venos integral, recoltat \u00een tub cu EDTA<\/span><\/p>\n<p><span style=\"color: #ff9900\"><strong>9. Recoltare \u0219i condi\u021bii<\/strong><\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">Se recolteaz\u0103 s\u00e2nge venos \u00een tub EDTA.<\/span><\/li>\n<li><span style=\"color: #212529\">Nu este necesar postul alimentar.<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff9900\"><strong>10. Denumiri alternative<\/strong><\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">Familial Hypocalciuric Hypercalcemia (FHH)<\/span><\/li>\n<li><span style=\"color: #212529\">FHH Genetic Testing<\/span><\/li>\n<li><span style=\"color: #212529\">FHH Molecular Analysis<\/span><\/li>\n<li><span style=\"color: #212529\">Familial Hypocalciuric Hypercalcemia Panel<\/span><\/li>\n<li><span style=\"color: #212529\">FHH Panel \u2013 CASR\/GNA11\/AP2S1<\/span><\/li>\n<li><span style=\"color: #212529\">Test genetic FHH<\/span><\/li>\n<li><span style=\"color: #212529\">Panel genetic pentru hipercalcemie hipocalciuric\u0103 familial\u0103<\/span><\/li>\n<li><span style=\"color: #212529\">Hipercalcemie hipocalciuric\u0103 familial\u0103 tip 1, 2 \u0219i 3<\/span><\/li>\n<li><span style=\"color: #212529\">Calcium-Sensing Receptor Pathway Panel<\/span><\/li>\n<\/ul>\n<p><span style=\"color: #ff9900\"><strong>11. Analize asociate recomandate<\/strong><\/span><\/p>\n<p><span style=\"color: #212529\">Pentru evaluarea complet\u0103 a suspiciunii de FHH, testarea genetic\u0103 poate fi corelat\u0103 cu:<\/span><\/p>\n<ul>\n<li><span style=\"color: #212529\">calciu total seric;<\/span><\/li>\n<li><span style=\"color: #212529\">calciu ionizat;<\/span><\/li>\n<li><span style=\"color: #212529\">PTH intact;<\/span><\/li>\n<li><span style=\"color: #212529\">fosfor;<\/span><\/li>\n<li><span style=\"color: #212529\">magneziu;<\/span><\/li>\n<li><span style=\"color: #212529\">creatinin\u0103 \u0219i eGFR;<\/span><\/li>\n<li><span style=\"color: #212529\">calciu urinar;<\/span><\/li>\n<li><span style=\"color: #212529\">creatinin\u0103 urinar\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">raport calciu\/creatinin\u0103 urinar\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">25-OH vitamina D;<\/span><\/li>\n<li><span style=\"color: #212529\">fosfataz\u0103 alcalin\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">albumin\u0103 seric\u0103;<\/span><\/li>\n<li><span style=\"color: #212529\">evaluarea func\u021biei renale;<\/span><\/li>\n<li><span style=\"color: #212529\">istoricul familial de hipercalcemie;<\/span><\/li>\n<li><span style=\"color: #212529\">testare genetic\u0103 familial\u0103 \u021bintit\u0103.<\/span><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Testare genetic\u0103 molecular\u0103 pentru diagnosticul hipercalcemiei hipocalciurice familiale (<strong>FHH \u2013 Familial Hypocalciuric Hypercalcemia<\/strong>), o tulburare ereditar\u0103 a homeostaziei calciului caracterizat\u0103, \u00een general, prin hipercalcemie u\u0219oar\u0103 \u0219i persistent\u0103 asociat\u0103 cu excre\u021bie urinar\u0103 redus\u0103 a calciului.<\/p>\n<p>Analiza investigheaz\u0103 genele <strong>CASR, GNA11 \u0219i AP2S1<\/strong>, implicate \u00een principalele forme genetice cunoscute de FHH.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,5015,5016,2876],"product_tag":[],"class_list":["post-144768","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-genetica","product_cat-genetica-moleculara","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Testare genetic\u0103 molecular\u0103 pentru diagnosticul hipercalcemiei hipocalciurice familiale (FHH \u2013 Familial Hypocalciuric Hypercalcemia), o tulburare ereditar\u0103 a homeostaziei calciului caracterizat\u0103, \u00een general, prin hipercalcemie u\u0219oar\u0103 \u0219i persistent\u0103 asociat\u0103 cu excre\u021bie urinar\u0103 redus\u0103 a calciului. 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