#1
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ÑÄ1 èëè íåîíàòàëüíûé
Ñåãîäíÿ ïðèøëà ïàöèåíòêà 39 ëåò, ïåðâàÿ áåðåìåííîñòü. Äèàáåò ïî àìá. êàðòå ñ 3 ìåñÿöåâ. Îñëîæíåíèé êðàéíå ìàëî - ñåíñîðíûé äåôèöèò íåáîëüøîé, ÌÀÓ, íåïðîëèôåðàòèâíàÿ ðåòèíîïàòèÿ. Êåòîíîâûå òåëà íå ìîíèòîðèðóåò. Íâ À1ñ =8% - ýòî ó íàñ ÷àñòîå ÿâëåíèå.
Äëÿ òàêîãî ñòàæà ýòè îñëîæíåíèÿ - íè î ÷åì. Ìîæåò ëè ýòî áûòü íå èñòèííûé ÑÄ1, à äðóãîé - íåîíàòàëüíûé äèàáåò? Êîíå÷íî, ìîé èíòåðåñ ÷èñòî òåîðåòè÷åñêèé, íî êðàéíå íåòèïè÷íî â îòíîøåíèè îñëîæíåíèé. |
#2
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Ñêîðåå íåîíàòàëüíîûé - ê Òþëüïàêîâó ìá ïðèñëàí ìàòåðèàë íà ãåíåòèêó
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Ã.À. Ìåëüíè÷åíêî |
#3
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Äóìàþ, îíà ñîãëàñèòñÿ. Õîòÿ ñòðàííàÿ î÷åíü. Ðàáîòàÿ â ðîääîìå ñ ìîëîäûìè, âèäåëà ìàññó ãåòåðîãåííûõ ÑÄ. Âñåãäà ëþáîïûòíî.
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#4
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Ïóñòü íà÷íóò ñ òåëåìåäèöèíñêîé êîíñóëüòàöèè è îáñóäÿò íàïðàâëåíèå ìàòåðèàëà
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Ã.À. Ìåëüíè÷åíêî |
#5
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Íå çíàþ, èíòåðåñíî ëè ýòî áóäåò êðàåâîìó îòäåëåíèþ, êóäà åå ïî áåðåìåííîñòè ÿ íàïðàâèëà. Òåëåìåäèöèíà ó íèõ, íàäåþñü, ïîÿâèëàñü. Ïîêà îíà - ñ ïåðâîé áåðåìåííîñòüþ - íå õî÷åò ãîñïèòàëèçèðîâàòüñÿ, ïîòîìó ÷òî íà ðàáîòå íóæíî ïðèñóòñòâèå. Ñëîâîì, èíòåðåñ áîëüøå ìîé. Ó äåâóøåê, íå óêëàäûâàþùèõñÿ â 1 òèï, âñåãäà áûëè ïðèëè÷íûå äåòêè - ìíîãî ëó÷øå îáû÷íûõ ÈÇÑÄ. Ýòî ìîè ëè÷íûå âûâîäû çà áîëåå 20-ëåòíèé ïåðèîä. ðàáîòû â ðîääîìå.
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#6
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ìîæíî ïðåäïîëîæèòü, ÷òî ó ýòîé æåíùèíû ìîæåò áûòü Glucokinase-maturity-onset diabetes of the young (GCK-MODY) èëè MODY2, äëÿ íèõ õàðàêòåðíû ãèïåðãëèêåìèÿ ñ ìëàäûõ ëåò, êîòîðóþ ìîãëè ïðèíÿòü çà äèàáåò, è ìåäëåííîå ðàçâèòèå èëè îòñóòñòâèå îñëîæíåíèé (è ãëèêîãåìîãëîáèí äî 8%):
People with GCK-MODY have a defect in glucose sensing; hence, glucose homeostasis is maintained at a higher set point resulting in mild, asymptomatic fasting hyperglycemia (5.4-8.3 mmol/L, HbA1c range 5.8-7.6% [40-60 mmol/mol]), which is present from birth and shows slight deterioration with age. Even after 50 years of mild hyperglycemia, people with GCK-MODY do not develop significant microvascular complications, and the prevalence of macrovascular complications is probably similar to that in the general population. Treatment is not recommended outside pregnancy because glucose-lowering therapy is ineffective in people with GCK-MODY and there is a lack of long-term complications. In pregnancy, fetal growth is primarily determined by whether the fetus inherits the GCK gene mutation from their mother. Insulin treatment of the mother is only appropriate when increased fetal abdominal growth on scanning suggests the fetus is unaffected. --- Diabetes Care. 2015 Jul;38(7):1383-92. Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Èíòåðåñíî, ÷òî ãëèêåìèÿ è íèçêèé ÈÌÒ ìîãóò ñ îïðåäåëåííîé òî÷íîñòüþ îòëè÷àòü ýòî ñîñòîÿíèå îò ãåñòàöèîííîãî äèàáåòà: --- The population prevalence of GCK-MODY is 1.1 in 1,000 (95% CI 0.3-2.9 in 1,000) and prevalence in GDM is 0.9% (95% CI 0.3-2.3). Fasting glucose and BMI significantly differentiate GCK-MODY from GDM (P < 0.0001). Combined criteria of BMI <25 kg/m(2) and fasting glucose ≥5.5 mmol/L has a sensitivity 68%, specificity 96%, and number needed to test of 2.7 women with GDM to find one case of GCK-MODY. --- Diabetes Care. 2014;37(5):1230-6. The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |
#7
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Íàäî ñêàçàòü, ÷òî â íàøåé ñòðàíå áîëüøóþ ðàáîòó ïî ðàçäåëåíèþ ÌODY 2 è ãåñòàöèîííûé ïðîâåëè Ô Áóðóìêóëîâà è À Òþëüïàíîâ, ýòî äîñòàòî÷íî õîðîøî èçâåñòíîå ñîñòîÿ6èå, è íåñêîëüêî äîêëàäîâ áûëî íà ïðîøåäøåì ñúåçäå
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Ã.À. Ìåëüíè÷åíêî |
#8
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Ñ ó÷åòîì ìàíèôåñòàöèè â 3 ìåñÿöà - ñêîðåå íåîíàòàëüíûé.
À âîò MODY ïðèøåë â÷åðà - ïî÷òè 100% íàñëåäîâàíèå â ñåìüå, ìàññà îñëîæíåíèé. Ïîëó÷àë èíòåíñèôèöèðîâàííóþ èíñóëèíîòåðàïèþ, à ñåé÷àñ äåðæèòñÿ íà Äæàðäèíñå, ïîäêàëûâàÿ íà áîëüøóþ åäó êîðîòêèé. Äàëè Äæàðäèíñ ïî ëüãîòå. Ïîâåçëî åìó, õîòÿ è ìîæåò ïîêóïàòü, íå ñîâñåì áåç ñðåäñòâ.  Ðåãèñòðå íèêòî íå âûäåëÿåò ýòè òèïû - èíà÷å ïóòàíèöà íà÷íåòñÿ. ß ïåðåïèñûâàëàñü ñ Áóðóìêóëîâîé ïî ïîâîäó èññëåäîâàíèé - îíà ìîãëà áðàòü òîëüêî ìîñêâè÷åé. |
#9
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 ðåãèñòðå ñòàëè ïîÿâëÿòüñÿ îòäåëüíî îñîáûå òèïû
25 ñåëåêòîð ñ ãëàâíûìè, çàäàì âîïðîñ
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Ã.À. Ìåëüíè÷åíêî |
#10
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MODY2 èëè ñâÿçàííûé ñ ìóòàöèÿìè â ãåíå ãëþêîêèíàçû îòëè÷àåòñÿ îò äðóãèõ MODY îòñóòñòâèåì äèàáåòè÷åñêèõ îñëîæíåíèé, ôåíîòèïè÷åñêè îí î÷åíü ðàçíîîáðàçåí è â êàæäîì òðåòüåì-âòîðîì ñëó÷àå ìîæåò ñîîòâåòñòâîâàòü êðèòåðèÿì äèàãíîçà "ñàõàðíîãî äèàáåòà", âêëþ÷àÿ è íåîíàòàëüíûå ôîðìû:
...specific gene mutations can present clinically as a neonatal form as well as ‘type 2‐like’ or ‘type 1‐like’ forms during adulthood (27) which makes diagnosis very difficult especially when symptoms, laboratory tests, and phenotype correspond to ‘double’ diabetes or even ‘triple’ diabetes with features of DM1, DM2, and presence of monogenic mutation. It is not an exception that patients with GCK-MODY are diagnosed as DM1 and treated with insulin... õîòÿ ó áîëüøèíñòâà ïàöèåíòîâ ïðîñëåæèâàåòñÿ îòÿãîùåííàÿ íàñëåäñòâåííîñòü, â 10-15% îíà ìîæåò è îòñóòñòâîâàòü, ïîòîìó ÷òî ó ðîäñòâåííèêîâ/ðîäèòåëåé ñ ìóòàöèåé ìîã áûòü è íîðìàëüíûé óðîâåíü ãëèêåìèè: öèôðû òîùàêîâîé ãëèêåìèè ó äåòåé ñ MODY2 èç Ïîëüøè: 4/34 patients with normal values with a glucose level below 5.5 mmol/L 10/34 patients with a glucose level above 6.9 mmol/L characteristic for DM, 20/34 with an IFG 5.5-6.9 mmol/L
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Èñêðåííå, Âàäèì Âàëåðüåâè÷. |