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Àëüäîñòåðîí, ïàðàòãîðìîí, ôîñôîð... èëè Ìþíõãàóçåí?
Çäðàâñòâóéòå, óâàæàåìûå êîëëåãè!
Ïîä Íîâûé ãîä ïîëó÷èëà âîò òàêóþ "çàãàäêó". Áóäó áëàãîäàðíà âñåì, êòî ïðîêîììåíòèðóåò äàííûé êëèíè÷åñêèé ñëó÷àé. Ïàöèåíòêà 44 ëåò íàïðàâëåíà êàðäèîëîãîì äëÿ óòî÷íåíèÿ ãåíåçà ëàáîðàòîðíî âûÿâëåííîãî ãèïåðàëüäîñòåðîíèçìà. Ñðàçó ïîÿñíþ - ïàöèåíòêà "ïîãðóæåíà â òåìó" ìåòàáîëè÷åñêèõ íàðóøåíèé è èõ êîððåêöèè ïðè àóòèçìå (ò.ê. ó ñûíà åñòü ýòî ðàññòðîéñòâî), äåëàåò àíàëèçû, ïûòàÿñü ñàìîñòîÿòåëüíî ïîíÿòü ïðè÷èíó ñâîåãî çàáîëåâàíèÿ. Æàëîáû íà ÷óâñòâî óñòàëîñòè, áûñòðóþ óòîìëÿåìîñòü, ÷óâñòâî äàâëåíèÿ â îáëàñòè ñåðäöà è óñèëåííîå ñåðäöåáèåíèå âíå ñâÿçè ñ ôèçè÷åñêîé íàãðóçêîé, ýïèçîäû (íåñêîëüêî ðàç â ìåñÿö) âûðàæåííîé îäûøêè ñ ñåðäöåáèåíèåì, ñ îùóùåíèåì ææåíèÿ èëè áîëåé â æèâîòå, ÷àùå óòðîì, ïðè âñòàâàíèè ñ ïîñòåëè; ÷àñòî - îáèëüíîå ìî÷åèñïóñêàíèå, ñêëîííîñòü ê çàïîðàì. Àíàìíåç çàáîëåâàíèÿ: 3 ãîäà íàçàä ïîñëå êóðñà àíòèáèîòèêîâ ïîÿâèëèñü âûøåóêàçàííûå æàëîáû, ïðè îáñëåäîâàíèè âûÿâëåíî ïîâûøåíèå óðîâíÿ àëüäîñòåðîíà (434,9 ïã/ìë) ïðè íîðìàëüíîì óðîâíå êàëèÿ â ñûâîðîòêå (êàëèé 4,57 ììîëü/ë, íàòðèé 136,5 ììîëü/Ë), óðîâåíü ðåíèíà íå èññëåäîâàí. Ïîñòåïåííî ñàìî÷óâñòâèå íîðìàëèçîâàëîñü.  ìàå 2022 ã. áûëà "ïàíè÷åñêàÿ àòàêà" ñ îäûøêîé, òàõèêàðäèåé è ïîäúåìîì ÀÄ äî 160/.., ïîñëå ïåðåíåñåííîé êîðîíàâèðóñíîé èíôåêöèè. Áîëüøå ïîäîáíûõ ïîäúåìîâ ÀÄ íå çàôèêñèðîâàíî. Ðàíåå èññëåäîâàëà êîðòèçîë â ñóò.ìî÷å, ñî ñëîâ, áûë íà íèæíåé ãðàíèöå ðåôåðåíñà. Ýïèçîäû óñèëåííîãî äèóðåçà - íåñêîëüêî ëåò. Âûÿâëÿëîñü ïîâûøåíèå ýêñêðåöèè ìàãíèÿ ñ ìî÷îé, íåïîñòîÿííî - ïîâûøåííàÿ ýêñêðåöèÿ ôîñôàòîâ, êàëüöèÿ, íàòðèÿ, ìî÷åâîé êèñëîòû; íåðåäêî, ñî ñëîâ, ðÍ ìî÷è âûøå 7,0. Ñòðóêòóðíîé ïàòîëîãèè ïî÷åê, ñíèæåíèÿ ÑÊÔ íå áûëî. Êîíñóëüòèðîâàíà íåôðîëîãîì, ðåêîìåíäîâàí êóðñ êàíåôðîíà. Íàñòîÿùåå óõóäøåíèå ñâÿçàëà ñ ïðèåìîì Êëàéðû (íàçíà÷åíà â ñâÿçè ñ ãèïåðìåíñòðóàëüíûì ñèíäðîìîì) - íà 3 íåäåëå ïðèåìà ïðåïàðàòà ïîÿâèëèñü âûðàæåííàÿ îäûøêà, ñåðäöåáèåíèå, ñóäîðîãè èêðîíîæíûõ ìûøö, áîëè â ïîäðåáåðüå ñïðàâà, ïðåïàðàò îòìåíèëà, áîëüøå íå ïðèíèìàëà. Ïðè îáñëåäîâàíèè âíîâü âûÿâëåíî ïîâûøåíèå àëüäîñòåðîíà äî 262 ïã/ìë (13,37-233,55), ïðè íîðìàëüíûõ óðîâíÿõ ðåíèíà 18,37 ïã/ìë (2,79-61,83) è ÀÐÑ 14,3 (0,52-37,83). Îáðàòèëàñü ê êàðäèîëîãó, ïðèíèìàåò òðèìåòàçèäèí, ìåêñèäîë, ñîõðàíÿåòñÿ ÷óâñòâî óñòàëîñòè. Íàïðàâëåíà äëÿ óòî÷íåíèÿ äèàãíîçà.  àíàìíåçå æèçíè: Ìåíàðõå â 12 ëåò, ìåíñòðóàöèè ðåãóëÿðíûå, â ïîñëåäíåå âðåìÿ îáèëüíûå. Ïðîâåäåíà ãèñòåðîðåçåêòîñêîïèÿ â àâãóñòå 2023 ã. Áåðåìåííîñòåé è ðîäîâ 2, áåç îñîáåííîñòåé, ìëàäøåìó ðåáåíêó 11 ëåò. Ëàòåíòíûé äåôèöèò æåëåçà, ñåé÷àñ ïðåïàðàòû æåëåçà íå ïðèíèìàåò. Õðîíè÷åñêèé ãàñòðîäóîäåíèò âíå îáîñòðåíèÿ. Ïåðåëîìû: íå áûëî Âðåäíûå ïðèâû÷êè: íåò Íàñëåäñòâåííîñòü: Àà ó ìàìû, ÎÍÌÊ ó äåäà ïî ìàòåðèíñêîé ëèíèè â 50 ëåò. Ýïèäàíàìíåç: áåç îñîáåííîñòåé. Îáúåêòèâíûé ñòàòóñ áåç êàêèõ-ëèáî îñîáåííîñòåé. Ðîñò: 163 ñì, âåñ: 55,5êã, ÈÌÒ: 20,9 êã/ì 2. ×ÑÑ 78, ×ÄÄ: 16 â ìèí, ÀÄ 110/70 ìì. ðò. ñò. Ñàòóðàöèÿ 98%. Îáñëåäîâàíèå: -â îáùåì àíàëèçå êðîâè íîðìîõðîìíàÿ àíåìèÿ ëåãêîé ñòåïåíè (ýðèòðîöèòû 3,77*10^12/ë, Íâ 120 ã/ë, ÌÑÍ 31,9 ïã), îòíîñèòåëüíûé ëèìôîöèòîç (ëåéêîöèòîâ 5,5*10^9/ë, ëèìô. 50%) - îáùèé àíàëèç ìî÷è áåç îòêëîíåíèé îò íîðìû, ðÍ 6,5, óä.âåñ 1010 - êàëèé 4,26, íàòðèé 137,0, õëîðèäû 101,3 - ôåððèòèí 21,1 ìêã/ë, êîýôôèöèåíò íàñûùåíèÿ òðàíñôåððèíà 17% - îáùèé áåëîê 73 ã/ë, â ïðîòåèíîãðàììå áåç îñîáåííîñòåé - ÒÒà 1,34 ìêÌÅä/ìë, ñâ.Ò4 12,03 ïìîëü/ë, - êàëüöèé èîíèçèðîâàííûé 1,16 ììîëü/ë (1,12-1,32), ïàðàòãîðìîí 103,5 ïã/ìë (12,3-91,5) - ðåíèí 18,37 ìã/ìë (2,79-61,83) - àëüäîñòåðîí 262 ïã/ìë (13,37-233,55) - ÀÐÑ 14,3 (0,52-37,83) - ÀÊÒà 28,3 ïã/ìë (7,2-63,3) - ÔÑà 12 ìÌÅ/ìë (3,03-8,08 äëÿ ôîëëèêóëÿðíîé ôàçû) - Ëà 4,32 ìê ÌÅ/ìë (1,08-11,78) - ÃÑÏà 74,4 íìîëü/ë (14,7-122,5) - ïðè îñòåîäåíñèòîìåòðèè ñíèæåíèÿ ÌÏÊ ïî Z-êðèòåðèþ íà óðîâíå ëó÷åâûõ êîñòåé, øåéêè áåäðà è ïîÿñíè÷íûõ ïîçâîíêîâ íå âûÿâëåíî. - Ïðîâåäåí ìóëüòèñòåðîèäíûé àíàëèç êðîâè ìåòîäîì òàíäåìíîé ìàññ-ñïåêòðîìåòðèè (3 äåíü ì.ö.): 17-ÎÍ-ïðåãíåíîëîí 3,2 íã/ìë (0,0-2,26) Äåãèäðîýïèàíäðîñòåðîí 7,69 íã/ìë (0,63-4,7) Ïðîãåñòåðîí 0,08 íã/ìë (ìåíåå 0,17 äëÿ ôîëëèê.ôàçû) 17-ãèäðîêñèïðîãåñòåðîí 0,75 íã/ìë (0,15-0,70) Àíäðîñòåíäèîí 3,07 íã/ìë (0,13-0,82) Òåñòîñòåðîí 0,4 íã/ìë (0,09-0,55) 11-äåçîêñèêîðòèçîë 1,11 íã/ìë (0,0-0,55) Êîðòèçîë 161,1 íã/ìë (46-206) Êîðòèçîí 23,3 íã/ìë (12-35) 21-äåçîêñèêîðòèçîë 0,02 íã/ìë (0,0-0,59) Ïî ïðåäñòàâëåííûì äàííûì äåëàþ âûâîä: Íà ìîìåíò îñìîòðà óáåäèòåëüíûõ äàííûõ â ïîëüçó ãèïåðàëüäîñòåðîíèçìà íåò. Èçìåíåíèÿ â ñòåðîèäíîì ïðîôèëå êëèíè÷åñêè íå çíà÷èìû (íåò ÀÃ, âèðèëèçàöèè, íåò îñíîâàíèé ïðåäïîëàãàòü íåêëàññè÷åñêóþ ôîðìó äåôèöèòà 11b-ãèäðîêñèëàçû). Ðåêîìåíäóþ äîîáñëåäîâàíèå äëÿ óòî÷íåíèÿ ïðè÷èíû ïîâûøåíèÿ óðîâíÿ ïàðàòãîðìîíà. Â÷åðà íà îñìîòðå: Æàëîáû ïðåæíèå. Ñîîáùèëà, ÷òî 30.12.2023 ã. áûë ýïèçîä âûðàæåííîé îäûøêè, òàõèêàðäèè äî 140 â ìèíóòó, ïîäúåì ÀÄ äî 145/80 ìì ðò ñò. ÑÌÏ äîñòàâëåíà â ïðèåìíîå îòäåëåíèå äåæ.ñòàöèîíàðà, èñêëþ÷åí îñòðûé êîðîíàðíûé ñèíäðîì è ÒÝËÀ (àíãèîïóëüìîíîãðàôèÿ). Ïðîâåäåíà èíôóçèÿ ìàãíåçèè è êàëèÿ õëîðèäà íà ãëþêîçå. 2 äíÿ íàçàä ïîâòîðèëñÿ ýïèçîä îäûøêè è òàõèêàðäèè, ñàìîñòîÿòåëüíî èçìåðÿëà óðîâåíü ãëèêåìèè - 3,5 ììîëü/ë, â ìî÷å - ++ ðåàêöèÿ íà àöåòîí (òåñò-ïîëîñêîé). Ïîñëå ïðèåìà ïðîñòûõ óãëåâîäîâ ñòàëî ëó÷øå. Ïèòàíèå, ñî ñëîâ, ñáàëàíñèðîâàííîå. Íèêàêèõ ÁÀÄ â òå÷åíèå ïîñëåäíåãî ìåñÿöà íå ïðèíèìàåò. Ãèïîãëèêåìèè ëàáîðàòîðíî íè ðàçó íå çàôèêñèðîâàíî.  àíàëèçàõ (ñäàíû äî ïðèñòóïà): -25(ÎÍ) âèòàìèí Ä 28,7 íã/ìë - ôîñôîð â ñûâîðîòêå 1,87 ììîëü/ë (0,81-1,45) - Êàëüöèé îáùèé â ñûâîðîòêå 2,36 ììîëü/ë (ñêîððåêòèðîâàííûé ïî àëüáóìèíó 2,26 ììîëü/ë) - Êðåàòèíèí ñûâîðîòêè 53,4 ìêìîëü/ë - Êðåàòèíèí â ñóòî÷íîé ìî÷å 8,28 ììîëü/ñóòêè - Êàëüöèé â ñóòî÷íîé ìî÷å 1,96 ììîëü/ñóòêè (2,5-7,5) - Êëèðåíñ êðåàòèíèíà 107,6 ìêîëü/ë - Ñîîòíîøåíèå êëèðåíñà êàëüöèÿ è êëèðåíñà êðåàòèíèíà 0,0054 - Ôîñôîð â ñóòî÷íîé ìî÷å 120,4 ììîëü/ñóòêè (12,9-42,0) Ðàñöåíèâàþ ïîâûøåíèå óðîâíÿ ïàðàòãîðìîíà è ñíèæåíèå ýêñêðåöèè êàëüöèÿ (â îòñóòñòâèè ãèïåðêàëüöèåìèè) êàê ñëåäñòâèå ãèïåðôîñôàòåìèè, à íå êàê ñèíäðîì FHH. Íî ñàìó ãèïåðôîñôàòåìèþ è ãèïåðôîñôàòóðèè îáúÿñíèòü íå ìîãó. Âîçìîæíî, àëèìåíòàðíîãî ãåíåçà? (èçáûòîê áåëêà, äåôèöèò óãëåâîäîâ), õîòÿ ýòî êàòåãîðè÷åñêè îòðèöàåò. Âîïðîñû: Íå óïóñêàþ ëè ÿ ÷òî-íèáóäü?  ÷åì åùå ìîæåò áûòü ïðè÷èíà ãèïåðôîñôàòåìèè â äàííîì ñëó÷àå? Èëè âñå-òàêè "ñèíäðîì Ìþíõãàóçåíà"? |
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Äàâàéòå ïî î÷åðåäè : ãèïåðàëüäîñòåðîíèçìà ïåðâè÷íîãî íåò- òî÷êà. Ùèòîâèäíàÿ æåëåçà ðàáîòàåò íîðìàëüíî, êòî äîêàæåò ãèïîêàëüöèóðè÷åñêóþ ãèïåðêàëüöèêìèþ? Ôîðìóëà åñòü
Íî ýòà áîëÿ÷êà íèêàê ïðèñòóïû íå îá’ÿñíÿåò- à ìåòàíåôðèíû äåëàëè?
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Ã.À. Ìåëüíè÷åíêî |
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Áëàãîäàðþ, Ãàëèíà Àôàíàñüåâíà!
Ìåòàíåôðèíû ïîñìîòðþ (ñâÿçü ïðèñòóïîâ ñ ïåðåìåíîé ïîëîæåíèÿ òåëà, ýïèçîäû ïîëèóðèè, ñêëîííîñòü ê çàïîðàì - êàê ïðîÿâëåíèÿ ãèïîâîëåìèè...) |
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È òåì íå ìåíåå 2/3 èññëåäîâàííîãî - ïîïûòêà « îòêóïèòüñÿ» àíàëèçàìè îò íàñòûðíîé áîëüíîé.
Äàæå âîëè áû ïàðàòãîðìîí áûë åùå âûøå, à 25 ( îí) íèæå - êàê ýòî îáúÿñíÿëî áû óõóäøåíèÿ ñîñòîÿíèÿ?
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Ã.À. Ìåëüíè÷åíêî |
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Êëàéðà è äð ÊÎÊ íàðóøàþò âñàñûâàíèå æåëåçà, âîçìîæíî íà ýòîì ôîíå óñóãóáëåíèå ñèìïòîìîâ ÆÄÀ ñî ñêà÷êàìè ÀÄ è ñåðäå÷íûìè ïðîÿâëåíèÿìè.
Ïî÷åìó íå ïðèíèìàþòñÿ ïðåïàðàòû æåëåçà? Ñåé÷àñ ìîæíî ÷àñòü ââåñòè â/âåííî äëÿ áûñòðîãî èçáàâëåíèÿ îò áîëüøåé ÷àñòè æàëîá, äàëåå - ïåð îñ. Ðåçåêòîñêîïèÿ ïî ïîâîäó ÷åãî áûëà?
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=Åêàòåðèíà Àíàòîëüåâíà |
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Ðåçåêòðñêîïèÿ - ïðîñòàÿ ãèïåðïëàçèÿ. Ïåðåíåñëà õîðîøî, áåç óñóãóáëåíèÿ ñèìïòîìàòèêè è ïàðîêñèçìîâ.
Ïðî àíåìèþ (íîðìîõðîìíóþ) äóìàëà: íå ìîæåò ëè ïîìèìî ÆÄÀ áûòü "õðîíè÷åñêèé áåññèìïòîìíûé" ãåìîëèç ñ âûõîäîì âíóòðèêëåòî÷íîãî ôîñôàòà. Èêòåðè÷íîñòè, "áåñïðè÷èííûõ" òåìïåðàòóðíûõ ñâå÷åé íå áûëî, ïå÷åíü, ñåëåçåíêà íîðì - íàâåðíî, óìíè÷àþ.. |
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íîðìîõðîìíîé àíåìèÿ ìîæåò áûòü èç-çà ñî÷åòàíèÿ äåôèöèòà æåëåçà è ôîëèåâîé, íî âñå ðàâíî ìîæåò îòâåòèòü íà ëå÷åíèå æåëåçîì;
ãåìîëèç äîëæåí áûòü ñóùåñòâåííûì, ÷òîáû âûçâàòü ãèïåð-ôîñôàòåìèþ, âîò îñí. ïðè÷èíû Renal failure is the most common cause of hyperphosphatemia. A glomerular filtration rate of less than 30 mL/min significantly reduces the filtration of inorganic phosphate, increasing its serum level. Other less common causes include a high intake of phosphorus or increased renal reabsorption. High intake of phosphate can result due to excessive use of phosphate-containing laxatives or enemas, and vitamin D intoxication. Vitamin D increases intestinal phosphate absorption. Hyperphosphatemia can also be due to genetic causes. Several genetic deficiencies can lead to hypoparathyroidism, pseudohypoparathyroidism, and decreased FGF-23 activity. Pseudohyperphosphatemia is a laboratory artifact sometimes seen in patients with hyperglobulinemia, hyperlipidemia, and hyperbilirubinemia. This artifact is due to interference in phosphate assay.
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
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Íàñòîðàæèâàþò ïðèñòóïû òàõèêàðäèè äî 140/ìèí. Ìîæíî ïîñïðîøàòü ïðî ðåãóëÿðíîñòü , íà÷àëî è êîíåö ïðèñòóïîâ è ïð. Íî Õîëòåð íà ìåñÿö ïîñòàâèòü ñòîèò. Íå ÑÂÒ ëè? Èëè äàæå ïàðîêñèçìàëüíàÿ ìåðöàòåëüíàÿ àðèòìèÿ?
Íå âèæó íè îäíîãî ãîðìîíàëüíîãî ïàðàìåòðà, ìîãóùåãî îáúÿñíèòü æàëîáû.
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Dr.B |