Istoriya Bolezni Po Pediatrii Pnevmoniya

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Mahlinovskaya, G.K. Lapshina, S.G.

Kulakova, T.D. Tihonova Detskaya gorodskaya klinicheskaya bol'nica N 9 im. Speranskogo, Moskva Klyuchevye slova: - redkoe zabolevanie, otnositsya k gruppe boleznei, svyazannyh s narusheniem obmena lipidov [1, 2]. Metabolicheskim defektom yavlyaetsya otsutstvie kisloi fosfatazy, vedushee k nakopleniyu holesterina, ego efirov, trigliceridov v teh tkanyah, gde naibolee intensivno proishodit ih sintez, - v kore nadpochechnikov, pecheni, slizistoi kishechnika [3- 7].

Otlozhenie lipidov soprovozhdaetsya uvelicheniem pecheni, selezenki, limfouzlov. Patognomonichnym yavlyaetsya nakoplenie bol'shogo kolichestva kal'ciya v zonah zhirovyh nekrozov v nadpochechnikah, chto delaet vozmozhnym prizhiznennuyu diagnostiku etogo zabolevaniya rentgenologicheskimi metodami (obzornyi spisok organov bryushnoi polosti, komp'yuternaya tomografiya). V perifericheskoi krovi poyavlyayutsya vakuolizirovannye limfocity, neredko anemiya, v kostnom mozge - penistye kletki. Alazhillya, klinicheskie simptomy razvivayutsya v pervye dni ili nedeli zhizni [1].

Rvota, diareya bystro privodyat k gipotrofii, cherez neskol'ko nedel' otmechaetsya razvernutaya kartina:, uvelichenie zhivota, pecheni i selezenki. Zabolevanie fatal'no, letal'nyi ishod nastupaet obychno v pervye 6 mes zhizni, nasledovanie po autosomno-recessivnomu tipu.

Privodim sobstvennoe nablyudenie. Gospitalizirovana v Detskuyu gorodskuyu klinicheskuyu bol'nicu N 9 v vozraste 3 mes po povodu gepatosplenomegalii,, gipotrofii. Devochka rodilas' u molodyh zdorovyh roditelei, ot pervoi beremennosti, protekavshei s anemiei, ugrozoi preryvaniya vo vtoroi polovine, otmechalas' kal'cinaciya placenty. Rody v srok, massa tela 3300 g, dlina 52 sm. Paintball gun serial number lookup. V svyazi s podozreniem na aspiraciyu molokom v vozraste 2 ned rebenok nahodilsya v stacionare, gepatosplenomegaliya i anemiya togda otsutstvovali.

Vskarmlivalas' molochnymi smesyami, otmechalas' umerennaya gipotrofiya. Psihomotornoe razvitie sootvetstvovalo vozrastu. V 3-mesyachnom vozraste vyyavlena anemiya (87 g/l), uvelichenie pecheni i selezenki. Pri gospitalizacii devochka aktivnaya, veselaya, appetit ne narushen, srygivaniya redkie, otmechalas' subikterichnost' kozhi i skler. Vedushimi byli priznaki portal'noi gipertenzii, gipotrofii II stepeni i anemiya. Zhivot rezko uvelichen v ob'eme, na perednei poverhnosti zhivota razvita venoznaya set', pechen' massivnaya, plotnaya, s rovnym kraem, uvelicheniem obeih dolei, vystupala iz-pod kraya rebernoi dugi po perednei aksillyarnoi linii na 7 sm, po sredneklyuchichnoi linii - na 6 sm, po srednei linii zhivota - na 2/3. Selezenka plotnoi konsistencii pal'pirovalas' na 3 sm iz-pod kraya rebernoi dugi.

Stul 3-4 raza v sutki neperevarennyi, zhidkii, s nebol'shim kolichestvom slizi, okrashennyi. Mocha svetlaya, diurez adekvatnyi. Analiz mochi normal'nyi.

V analize krovi: Hb 102 g/l, er. 3,1•10 12l -1, rc.

180•10 9l -1, l. 10,2•10 9l -1, p. 2%; SOE 39 mm/ch. Edinichnye limfocity imeyut vakuol'nyi vid. Bilirubin - 30 mkmol'/l, svyazannaya frakciya - 25 mkmol'/l.

Holesterin - 6,8 mkmol'/l, -lipoproteidy - 78 ed. (norma 35,5 ed.), ALT - 130 ed. (norma 50 ed.), AST - 424 ed. (norma 60 ed.), timolovaya proba - 15,3 ed. (norma 4 ed.), seromukoid - 0,17 ed., S-reaktivnyi belok - otr.

Obshii belok, frakcii, protrombin i drugie pokazateli gemostaza, zhelezo, mochevina, kreatinin, glyukoza, amilaza v predelah normal'nyh cifr. Takim obrazom, biohimicheskie pokazateli svidetel'stvovali o porazhenii pecheni: mezenhimal'no-vospalitel'nom sindrome, i. Sochetanie gepatosplenomegalii, gipotrofii i anemii pri otsutstvii priznakov infekcionnogo toksikoza u rebenka v vozraste 3 mes trebovalo isklyucheniya naibolee veroyatnyh gematologicheskih zabolevanii, vnutriutrobnyh infekcii, novoobrazovanii, boleznei obmena veshestv. V punktate kostnogo mozga obnaruzheno uvelichenie kolichestva retikuloendotelial'nyh kletok (do 12%) v vide skoplenii, krupnye yacheistye kletki s odnim ili dvumya yadrami, v sostoyanii mitoza, otmechalos' razdrazhenie megakariocitarnogo rostka s preobladaniem zrelyh elementov, obednenie neitrofil'nogo rostka.