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â ãåíîòèïå æåíû îáíàðóæåí HLA B27:xx, ïðåäïîëàãàþùèé ê ðàçâèòèþ áîëåçíè Áåõòåðåâà
Çäðàâñòâóéòå. Ïîìîãèòå, ïîæàëóéñòà! Ìíå 27 ëåò. ÈÌÒ 33,5.  àíàìíåçå 3 áåðåìåííîñòè: 2 ðåãðåññèðóþùèå íà ìàëûõ ñðîêàõ (6-7 íåäåëü). è 1-ïðåðûâàíèå ïî-ìåä. ïîêàçàíèÿì íà ñðîêå 27-28 íåäåëü( ìàëîå êåñàðåâî ñå÷åíèå)- ÂÏÑ ïëîäà, ÄÌÆÏ, äâîéíîé âûõîä ñïðàâà ãëàâíûõ àðòåðèé ñ òðàíïîçèöèåé ñîñóäîâ, ñòåíîç ëåãî÷íîãî ñòâîëà, ãèïåðòðîôèÿ ïðàâîãî æåëóäî÷êà.
Ñäàííûå àíàëèçû: Öèòîìåãàëîâèðóñ IgG 467,4 åä/ìë; IgM- íå îáíàðóæåí Ïðîëàêòèí 695 ìÅä/ë (ïîñòàâèëè ôóíêöèîíàëüíóþ ãèïåðïðîëàêòèìèþ; ôèáðîçíî-êèñòîçíóþ ìàñòîïàòèþ) Íàçíà÷åíî ëå÷åíèå: äîñòèíåêñ, öèêëîäèíîí, ïðîæåñòîæåëü. Âîë÷àíî÷íûé àíòèêîàãóëÿíò îáíàðóæåí (ýôôåêò ñëàáî âûðàæåí) Ãîìîöèñòåèí 9,67 (óìåíÿ) 7,09 (ó ìóæà) Ïîëèìîðôèçìû ãåíîâ: F5 Arg 506 Gln- ìóòàöèÿ íå îáíàðóæåíà F2 20210 G A - ìóòàöèÿ íå îáíàðóæåíà MTHFR +/MTHFR Ala222Val- ãåòåðîçèãîòà FGB+/FGB 455 G/A - ãåòåðîçèãîòà PAI-1+/PAI-1(675 4G/5G) - ãåòåðîçèãîòà GP IIIA+/GP IIIA Leu 33Pro - ãåòåðîçèãîòà MTRR Ile22Met/ MTRR Ile22Met - ìóòàíòíàÿ ãîìîçèãîòà Êàðèîòèïèðîâàíèå: Ó ìåíÿ: HLA-A 01:xx 24:xx HLA-B 27:xx 35:xx HLA-DRB1 07:xx 11:xx HLA-DQA1 02:01 05:01 HLA-DQB1 02:01 03:01 Ó ìóæà: HLA-A 01:xx 33:xx HLA-B 13:xx 14:xx HLA-DRB1 01:xx 07:xx HLA-DQA1 01:01 02:01 HLA-DQB1 05:01 02:01 Çàêëþ÷åíèå: Ìóæ è æåíà ñîâïàäàþò ïî 4 ãåíàì HLA: A01:xx, DRB1*07:xx, DQA1*02:01, DQB1*02:01  ãåíîòèïå æåíû îáíàðóæåí HLA B27:xx, ïðåäïîëàãàþùèé ê ðàçâèòèþ áîëåçíè Áåõòåðåâà, ðåàêòèâíûì àðòðèòàì, ñèíäðîìó Ðåéòåðà.  ñûâîðîòêå æåíû àíòè HLA àíòèòåë íå îáíàðóæåíî. Âîçìîæíà èììóíèçàöèÿ æåíû ïî 6 ãåíàì: HLA: A33:xx, B13:xx, B14:xx, DQB1*01:xx, DQA1*01:01, DQB1*05:01. Ãåìîñòàçèîãðàììà: ëåãêàÿ ãèïåðôèáðèíîãåíåìèÿ, ñëåãêà ïîâûøåí óðîâåíü ÐÔÌÊ, çàìåäëåí ýóãëîáóë.ëèçèñ Ïîäñêàæèòå, ïîæàëóéñòà, ðàñøèôðîâàòü ìîè ïîêàçàòåëè. Íàñêîëüêî ýòî ñåðüåçíî? Ñìîæåì ëè ìû ðîäèòü çäîðîâîãî ðåáåíêà? ×òî äåëàòü äàëüøå? |