{"id":27740,"date":"2025-06-24T16:51:47","date_gmt":"2025-06-24T13:51:47","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/gena-aldob-intoleranta-la-fructoza\/"},"modified":"2026-08-07T16:01:38","modified_gmt":"2026-08-07T13:01:38","slug":"gena-aldob-intoleranta-la-fructoza","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/gena-aldob-intoleranta-la-fructoza\/","title":{"rendered":"Gena ALDOB, intoleranta la fructoza (secventiere NGS)"},"content":{"rendered":"

Descriere general\u0103<\/h3>\n

Gena ALDOB<\/strong> codific\u0103 enzima fructoz\u0103-bisfosfat aldolaza B<\/strong>, implicat\u0103 \u00een metabolizarea fructozei, zaharozei \u0219i sorbitolului. Enzima este exprimat\u0103 \u00een principal \u00een ficat, rinichi \u0219i intestinul sub\u021bire \u0219i catalizeaz\u0103 conversia fructozei-1-fosfat \u00een metaboli\u021bi necesari producerii de energie.<\/p>\n

Muta\u021biile patogene ale genei ALDOB<\/strong> determin\u0103 acumularea fructozei-1-fosfat \u00een celule, inhib\u00e2nd glicogenoliza \u0219i gluconeogeneza. Consecin\u021ba este apari\u021bia episoadelor de hipoglicemie sever\u0103<\/strong>, afectare hepatic\u0103 \u0219i renal\u0103 dup\u0103 ingestia de alimente care con\u021bin fructoz\u0103, zaharoz\u0103 sau sorbitol.<\/p>\n

Boala se transmite autozomal recesiv<\/strong> \u0219i debuteaz\u0103, de regul\u0103, dup\u0103 introducerea fructelor, sucurilor sau alimentelor \u00eendulcite \u00een alimenta\u021bia sugarului.<\/p>\n

Afec\u021biuni sau simptome asociate<\/h3>\n
    \n
  • intoleran\u021b\u0103 ereditar\u0103 la fructoz\u0103 (HFI)<\/li>\n
  • hipoglicemie dup\u0103 consumul de fructoz\u0103<\/li>\n
  • v\u0103rs\u0103turi recurente dup\u0103 alimenta\u021bie<\/li>\n
  • refuz alimentar pentru alimente dulci<\/li>\n
  • transpira\u021bii \u0219i paloare dup\u0103 ingestia de fructoz\u0103<\/li>\n
  • letargie<\/li>\n
  • convulsii asociate episoadelor severe de hipoglicemie<\/li>\n
  • hepatomegalie<\/li>\n
  • afectare hepatic\u0103 progresiv\u0103<\/li>\n
  • icter<\/li>\n
  • insuficien\u021b\u0103 hepatic\u0103 (\u00een cazurile netratate)<\/li>\n
  • afectare renal\u0103 tubular\u0103<\/li>\n
  • \u00eent\u00e2rziere \u00een cre\u0219tere \u0219i dezvoltare<\/li>\n<\/ul>\n

    Cui se adreseaz\u0103<\/h3>\n
      \n
    • sugarilor care dezvolt\u0103 simptome dup\u0103 introducerea fructelor \u00een alimenta\u021bie;<\/li>\n
    • copiilor cu hipoglicemie inexplicabil\u0103;<\/li>\n
    • pacien\u021bilor cu afectare hepatic\u0103 f\u0103r\u0103 cauz\u0103 evident\u0103;<\/li>\n
    • persoanelor cu suspiciune de intoleran\u021b\u0103 ereditar\u0103 la fructoz\u0103;<\/li>\n
    • adul\u021bilor cu simptome persistente asociate consumului de alimente care con\u021bin fructoz\u0103, zaharoz\u0103 sau sorbitol;<\/li>\n
    • familiilor cu antecedente de HFI;<\/li>\n
    • pediatrilor;<\/li>\n
    • gastroenterologilor;<\/li>\n
    • hepatologilor;<\/li>\n
    • medicilor geneticieni.<\/li>\n<\/ul>\n

      Metodologie de testare<\/h3>\n
        \n
      • secven\u021biere NGS (Next Generation Sequencing);<\/li>\n
      • analiz\u0103 complet\u0103 a regiunilor codante \u0219i a limitelor exon\u2013intron ale genei ALDOB<\/strong>;<\/li>\n
      • detec\u021bia variantelor SNV \u0219i INDEL;<\/li>\n
      • analiz\u0103 bioinformatic\u0103 avansat\u0103;<\/li>\n
      • interpretarea variantelor conform ghidurilor ACMG;<\/li>\n
      • corelare genotip\u2013fenotip clinic.<\/li>\n<\/ul>\n

        Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
          \n
        • confirm\u0103 diagnosticul molecular al intoleran\u021bei ereditare la fructoz\u0103<\/li>\n
        • permite diagnosticul precoce \u00eenaintea apari\u021biei complica\u021biilor severe<\/li>\n
        • evit\u0103 efectuarea testelor de provocare cu fructoz\u0103, care pot fi periculoase<\/li>\n
        • permite instituirea rapid\u0103 a unei diete f\u0103r\u0103 fructoz\u0103, zaharoz\u0103 \u0219i sorbitol<\/li>\n
        • previne afectarea hepatic\u0103 \u0219i renal\u0103 progresiv\u0103<\/li>\n
        • permite consilierea genetic\u0103 a familiei<\/li>\n
        • identific\u0103 purt\u0103torii \u00een cadrul familiei<\/li>\n
        • faciliteaz\u0103 testarea familial\u0103 \u00een cascad\u0103 (cascade testing)<\/li>\n
        • contribuie la monitorizarea pe termen lung a pacien\u021bilor diagnostica\u021bi<\/li>\n<\/ul>\n

          Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n
            \n
          • testul analizeaz\u0103 exclusiv gena ALDOB<\/strong><\/li>\n
          • un rezultat negativ nu exclude complet alte tulbur\u0103ri ereditare ale metabolismului fructozei<\/li>\n
          • pot fi identificate variante cu semnifica\u021bie clinic\u0103 incert\u0103 (VUS)<\/li>\n
          • interpretarea trebuie corelat\u0103 cu tabloul clinic \u0219i investiga\u021biile biochimice<\/li>\n
          • \u00een cazurile cu suspiciune clinic\u0103 persistent\u0103 poate fi recomandat un panel extins pentru boli metabolice sau secven\u021bierea exomului<\/li>\n<\/ul>\n

            Tip de prob\u0103<\/h3>\n
              \n
            • s\u00e2nge periferic (EDTA) – 2 \u00d7 6 mL<\/strong><\/li>\n<\/ul>\n

              Recoltare \u0219i condi\u021bii<\/h3>\n
                \n
              • recoltare standard \u00een vacutainere EDTA<\/li>\n<\/ul>\n

                nu necesit\u0103 recoltare \u00e0 jeun (pe nem\u00e2ncate)<\/p>\n

                Denumiri alternative<\/h3>\n
                  \n
                • Test genetic ALDOB<\/strong><\/li>\n
                • Secven\u021biere NGS ALDOB<\/strong><\/li>\n
                • Analiz\u0103 genetic\u0103 pentru intoleran\u021b\u0103 ereditar\u0103 la fructoz\u0103<\/li>\n
                • Test genetic HFI (Hereditary Fructose Intolerance)<\/li>\n
                • Evaluare genetic\u0103 a metabolismului fructozei<\/li>\n<\/ul>\n

                  Analize asociate recomandate<\/h3>\n
                    \n
                  • glicemie<\/li>\n
                  • teste ale func\u021biei hepatice (ALT, AST, GGT, bilirubin\u0103)<\/li>\n
                  • uree \u0219i creatinin\u0103<\/li>\n
                  • electroli\u021bi serici<\/li>\n
                  • examen sumar de urin\u0103<\/li>\n
                  • consult gastroenterologic<\/li>\n
                  • consult hepatologic<\/li>\n
                  • consult nutri\u021bional pentru instituirea dietei f\u0103r\u0103 fructoz\u0103<\/li>\n<\/ul>\n

                    consult de genetic\u0103 medical\u0103<\/p>\n","protected":false},"excerpt":{"rendered":"

                    Testul genetic analizeaz\u0103 gena ALDOB<\/strong> prin tehnologie NGS (Next Generation Sequencing)<\/strong>, pentru identificarea variantelor patogene asociate cu Intoleran\u021ba ereditar\u0103 la fructoz\u0103 (Hereditary Fructose Intolerance \u2013 HFI)<\/strong>. Gena ALDOB<\/em> codific\u0103 enzima aldolaza B<\/strong>, esen\u021bial\u0103 \u00een metabolizarea fructozei la nivel hepatic, renal \u0219i intestinal. Deficitul acestei enzime determin\u0103 acumularea metaboli\u021bilor toxici ai fructozei, cu afectare hepatic\u0103 \u0219i metabolic\u0103 sever\u0103.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-27740","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t