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Preddushaya Sleduyushtaya



( paroksizmalyny)

Cm. Myoglobinuria idiopaticheskaya.

- ( vegetativnaya , disavtonomiya )

. (Riley SM) (1913-) - amerikanskiy . RL ( . .) (1905-) - amerikanskiy Pittsburga.

Nasledstvennoe zabolevanie ( retsessivny ) proyavlyayushteesya nenormalynoy aktivnostyyu parasimpaticheskoy sistem vnezapnmi pristupami povshennogo simpaticheskogo . osnovnom ogranichivaetsya obshtinoy evreev . Otmechayutsya vegetativnoy stabilynosti, gipersalivatsiya , , termoregulyatsii, povshennaya chuvstvitelynosty dhatelynm Depressantam. Proyavlyaetsya snizheniem bolevoy chuvstvitelynosti, ponizheniem slezootdeleniya, - sosudistmi rasstroystvami, narusheniem giporefleksiey, chastmi retsedivami , gipersalivatsiey aspiratsiey narusheniem , motsionalynoy labilynostyyu neperenosimostyyu anestetikov. Rebenok , ocheny motsionalen obilynm neobayasnimmi kolebaniyami AD ( gipotenzii gipertenzii). pizod vazomotornh Mughals bty kupirovan diazepamom. Vozmozhn pizodicheskie podaem temperatur, rvota, rvotnh , apno. vozraste 8-10 Chron poyavlyaetsya 본. Povshena chuvstvitelynosty holinrgicheskim adrenergicheskim preparatam. mikrotsefaliey, gidrotsefaliey, neproportsionalyno malenykim litsevm cherepom, vrozhdennmi porokami , vvihami megakolonom megazofagusom.

Oslozhneniya svyazan narusheniem bolevoy chuvstvitelynosti, disfunktsiey razvitiem aspiratsionnoy . uvelichivaet vyazkosty mokrot DLYA vnutrivennoe .

Dlya vpolne dostatochno . Vozmozhn . isklyuchity podaem AD . Letuchie galogenosoderzhashtie Mughals vzvaty bradikardiyu gipotermiyu, potomu dolzhn ispolyzovatysya ostorozhno. Induktsiyu BLE provodity titrovaniem . Dlya obezbolivaniya obchno bvaet dostatochno N2O O2 sochetanii nedepolyarizuyushtimi relaksantami opioidami korotkogo (, fentanilom). Oni Mughals ispolyzovatysya DLYA , Tac Dlya podderzhaniya 糳. Odnako detyam opioidne pered operatsiey primenyaty, sushtestvenno snizhayut ventilyatsionny gipoksemiyu giperkapniyu. - snizhennoy chuvstvitelynosti 糳 CO2 VREMYA trebuetsya . gidroksilaz otmechaetsya giperchuvstvitelynosty dopaminu adrenrgicheskim holinrgicheskim preparatam. chuvstvitelynosty . Galotan obchnh vzvaty znachitelynuyu depressiyu CCC. tubarin obchno normalynaya rekomenduyut vvodity trebuemuyu dozu titrovaniem neobhodimogo ffekta, nekotorh sluchayah bvaet dostatochno menyshey doz .

Regionarnaya 糳 vbora - nestabilynosti - sosudistoy sistem. provedenii 糳 uchitvaty imeyushtiesya . Trebuetsya , , temperatur . Soputstvuyushtie Ill ˸ sozdavaty problem posleoperatsionnom . Dlya obezbolivaniya obchno bvaet dostatochno (. Takzhe Disavtonomiya).

Randyu-Oslera- bolezny

Cm. Telangiktaziya gemorragicheskaya nasledstvennaya.

obratnogo ( viscerum)

Nasleduetsya predpolozhitelyno -retsessivnomu . Obchno vyavlyaetsya hirurgicheskih vmeshatelystvah povodu sochetannh porokov rentgenologicheskom obsledovanii. Vyavlyaetsya . sluchaev otmechayutsya soputstvuyushtie bryushnoy Polo: nepolny kishechnika, dvenadtsatiperstnoy toshtey kishok, udvoenie zheludka, kolytsevidnaya podzheludochnaya zhelchnogo puzrya, pahove grzhi. krupnh sosudov: , gipoplaziya legochnoy DMPP DMZHP, krupnh sosudov, otkrty aortalyny 볢, atrioventrikulyarny . Vozmozhn , rasshtelina Neba, , plechevoy gemangiom .

Spetsialynh rekomendatsiy vboru . Sleduet uchitvaty sistemne rasstroystva. M: G - 1,5: 1.

Rassela

Rassel . (Russell A.) - angliyskiy .

nasledovaniya . Otstavanie novorozhdennh supraselyarnh ( peredney tretyego ) hotya uroveny @ bty povshen, Rebenok istoshten, otsutstvuet . Bolyne obchno nizkogo Rost, vozmozhna asimmetriya , makroglossiya. Otmechayutsya povshennoe , natoshtak umstvennaya otstalosty.

podderzhanii dhatelynh . Trebuetsya urovnya glyukoz . 1:30 ; : G - 1: 1.

Rassela-Silyvera [Russell-Silver]

Cm. ѳ Rassela.

Rasshtelin litseve

Vrozhdennaya Vide poperechnoy rasshtelin raspolagayushteysya sboku Ugla RTA. Rasshtelina bty odno- dvustoronney. rotoglaznaya, nosoglazaya form rasshtelin . sochetanie gidrotsefaliey, gipertelorizmom, mikroftalymiey, mozgovmi grzhami, artrogripozom, anomaliyami palytsev. Mogwai bty sushtestvenne vpolnenii .

Rasshtelin sredinnoy

Cm. ij frontonazalynaya.

Rasshtelina Neba ( "volchyya ")

Mulytifaktornaya tiologiya. sochetanii - porokami. Vozmozhna trudnaya takzhe dhatelynaya ispolyzovanii bolyshih sedativnh .

Rasshtelina gub rasshtelina Neba. Rasshtelin (odno- dvustoronnyaya) voznikayut narushenii litsevh nebnh otrostkov. Otmechayutsya asimmetriya krlyev iskrivlenie nosovoy peregorodki prikusa. Rasshtelina gub Neba rasprostranyaetsya verhnyuyu , alyveolyarny otrostok, tverdoe myagkoe . PM 1: 1000.

Rasshtelina gub / Neba, 볳 bolyshih palytsev ( Yuberga-Heyvorda [Juberg-Hayward]). Nasleduetsya predpolozhitelyno -dominantnomu . Proyavlyaetsya mikrotsefaliey, rasshtelinoy gub, asimmetriey nozdrey, gipertelorizmom skeletnmi anomaliyami ( loktevh , iskrivlenie palytsev ). Vozmozhna podkovoobraznaya pochek.

Rasshtelina gub / Neba srashtenie . - nasledovanie. Proyavlyaetsya umstvennoy otstalostyyu, rasshtelinoy gub Neba, angidrozom, gipotrihozom, alopetsiey, zubnmi anomaliyami, displaziey nogtey, gipoplaziey genitaliy, sindaktiliey Costea anomaliyami pochek.

Rasshtelina gub / Neba mukozne kist nizhney ( -- [--Woude]) Goubet. Nasleduetsya -dominantnomu . Otmechayutsya kist slizistoy obolochke gub rasshelina gub / . PM 1: 100 .

provedenii 糳 premedikatsiyu rekomenduetsya vklyuchaty lishy . Vbor DLYA vrazhennosti . nebolyshih ispolyzovatysya barbiturat. sluchayah sochetaniya sindromom Pyera rekomenduyutsya galogenosoderzhashtie . Pered intubatsiey DLYA soskalyzvaniya rasshtelinu zhelatelyno .. predvaritelyno tamponirovaty. ispolyzovaty armirovanne intubatsionne . Podderzhanie 糳 obchno osushtestvlyaetsya ingalyatsionnmi anestetikami (galotan sochetanii zakisyyu ). soputstvuyushtey 㳳 vbor bty . Neobhodim bolynogo, . Neba ryade sluchaev rekomenduetsya proshivanie jazika sredney vvedenie shvov sheyu. to pozvolyaet preduprezhdaty legko ustranyaty obstruktsiyu dhatelynh . kstubatsiya vpolnyaetsya tolyko polnogo . Inogda trebuetsya prodlennaya (48-72 ).

D-defitsitny

Bolezny, svyazannaya defitsitom D, izbtkom nedostatkom kalytsiya kostnoy Tkani deformatsiyami uvelicheniem selezenki, profuznmi Potamia, anoreksiey boleznennostyyu prikosnoveniyah. pomoshtyyu holekalytsiferola.

Spetsialynh rekomendatsiy vboru MD 糳 .

D-zavisimy

-retsessivny nasledovaniya. D-defitsitnm rahitom. Simptom 2 . Otmechayutsya zamedlenie Rost motornogo mshechnaya gipotoniya slabosty. Vozmozhn patologicheskie perelom, sudorogi . vyavlyayutsya gipokalytsiemiya, - gipofosfatemiya. Trebuetsya korrektsiya lektrolitnh .

D-rezistentny

nasledstvennm, svyazannm X-hromosomoy, zabolevaniem. Proyavlyaetsya gipofosfatemiey - narushennoy kanalytsevoy vssvaniya kalytsiya, postupayushtego Gingerbread. kifoskolioze vozmozhn dhatelynh kskursiy.

Vozmozhn vpolnenii spinalynoy 糳 Otmechayutsya klinicheskie gipokalytsiemii.
M kalytsiya, urovnya .

( )

. ( .) - avstraliyskiy .

Proyavlyaetsya neozhidannoy poterey soznaniya (10) Chr prodromalynoy virusnoy respiratornoy kishechnoy . Otmechayutsya ntsefalopatiya vazogennogo infilytratsiey vnutrennih pervuyu ocheredy pochechnh kanalytsev. ѳ obchno privodit SERM - tyazhelogo diffuznogo . Nachalyne simptom vklyuchayut umerennuyu gipertermiyu, tahikardiyu, odshku gepatomegaliyu. Otmechaetsya bstroe narastanie nevrologicheskoy (dekortikatsionnaya rigidnosty rasshirenie zrachkov). vyavlyayut povshenie pechenochnh fermentov mochevin, chastichnogo urovnya .

ѳ laboratornmi kriteriyami nevospalitelynaya ntsefalopatiya mikrovezikulyarnm zhirovm metamorfozom ( ) povshenie Cem glutamatoksalatnoy transaminaz (GOT) glutamatpiruvatnoy transaminaz (GPT) svorotke takzhe leykotsitov TSSZH 9-10 / isklyuchenii diagnozov. Vozmozhen dhatelyny . Progressirovanie proishodit 3-6 dney.

K- usugublyayushtim pechenochnuyu ntsefalopatiyu, otnosyatsya: medikament (sedativne preparat, trankvilizator, , ); lektrolitne (giponatriemiya, gipokaliemicheskiy ); chrezmernaya nagruzka ( kishechne krovotecheniya, , , zapor) takzhe giloksiya, gipovolemiya.

infuzionnuyu terapiyu, vnutricherepnoy gipertenzii, intubatsiyu . , , DLA. dostigayut 30 , giperventilyatsiey Pcor 30 . - uderzhivaty 15 .., perfuzionnoe davlenie vshe 50 .. (Mogwai potrebovatysya inotropne preparat). Vlivanie alybumina. Ispolyzovanie mannitola (0,25-0,5 / ) tolyko 15-20 .. perfuzionnom davlenii 50 . vsokom (> 20 ..) nizkom tserebralynom perfuzionnom davlenii ispolyzuyut terapiyu tiopentalom ( 1-4 / infuziyu 2-10mg / / ). Kortikosteroid (deksatsetazon 1 / / ) ispolyzuyut tolyko rannih tapah. izbegaty vvedeniya , kotory uvelichivaet .

bolezny

Cm. bolezny.

Retikulez neleykemicheskiy

Cm. Nimanna-Spades bolezny.

Retikulez fibromieloidny

Cm. bolezny.

Retikulolimfomatoz makroglobinemicheskiy

Cm. ѳ Gipervyazkosti .

Retikulondotelioz metabolicheskiy

Cm. Nimanna-Spades bolezny.

Retikulondotelioz pitelioidno-kletochny hronicheskiy

Cm. .

nedonoshennh (retrolentnaya )

sosudistogo , razvivayushtayasya rezulytate setchatoy obolochki, chashte perifericheskih . Mikrotsirkulyatsii setchatoy obolochke privodit zameshteniyu soedinitelynoy tkanyyu. Vozmozhno kosoglaziya, oslableniya ³, blizorukosti polnoy Shepot. Razvivaetsya obchno nedonoshennh 3 mesyachnogo 80% sluchaev novorozhdennh vesom 1000 Osnovne tiologicheskie faktor : giperoksiya , , vnutricherepne krovoizliyaniya, nezarashenie arterialynogo . Vozrastanie proportsionalyno . DLYA rekomenduetsya podderzhivaty 60-80 . v. /

Retrolentkaya

Cm. nedonoshennh.

ѳ (giperammonemiya atroficheskaya)

. ( .) - avstriyskiy .

Predpolozhitelyno X-stseplenny dominantny nasledovaniya legalynostyyu Dlya gomozigotnh muzhskogo . Proyavlyaetsya progressiruyushtim autizmom, dementsiey, ataksiey, haotichnmi dvizheniyami , svyazannmi giperammoniemiey. Chashte devochek. 80% bolynh otmechayutsya sudorozhne pristup poddayushtiesya ﳳ. Vozmozhn dhaniya: cheredovane apno giperventilyatsii. Nablyudayutsya takzhe, spasticheskiy vazomotorne .

provedenii 糳 isklyuchity preparat, povshayushtie sudorozhnuyu ( metogeksiton ..). M
Rieger [Reiger]

- nasledovanie. Proyavlyaetsya mnozhestvennmi glaznmi anomaliyami deformatsiey .

Anesteziologicheskie analogichn takovm miotonicheskoy (. Distroficheskaya ). PM 1: 200000.



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