[{"@context":"https:\/\/schema.org\/","@type":"Article","@id":"https:\/\/www.zmmodel.cz\/alportuv-syndrom\/#Article","mainEntityOfPage":"https:\/\/www.zmmodel.cz\/alportuv-syndrom\/","headline":"Alport\u016fv syndrom","name":"Alport\u016fv syndrom","description":"\u017dijeme sice v 21. stolet\u00ed pln\u00e9 p\u0159evratn\u00fdch vyn\u00e1lez\u016f a pokrok\u016f ve v\u0161ech v\u011bdn\u00edch oblastech lidsk\u00e9ho z\u00e1jmu. P\u0159esto st\u00e1le existuj\u00ed nemoci, syndromy, kter\u00e9 dne\u0161n\u00ed medic\u00edna neum\u00ed l\u00e9\u010dit, nebo nezn\u00e1 p\u0159\u00ed\u010diny jejich vzniku, um\u00ed jejich \u00fa\u010dinky pouze odd\u00e1lit \u010di zm\u00edrnit bolest. \u00a0 Za n\u011bkter\u00e9 nemoci si tzv. m\u016f\u017eeme sami \u0161patn\u00fdm \u017eivotn\u00edm stylem – kou\u0159en\u00ed, pit\u00ed alkoholu, sedav\u00fd […]","datePublished":"2025-10-24","dateModified":"2025-10-24","author":{"@type":"Person","@id":"https:\/\/www.zmmodel.cz\/author\/#Person","name":"","url":"https:\/\/www.zmmodel.cz\/author\/","identifier":1,"image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/9cae764794acc12213aa530e21558ed2bd96c03f91e0c3ad21cc1905765be658?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/9cae764794acc12213aa530e21558ed2bd96c03f91e0c3ad21cc1905765be658?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"zmmodel.cz","logo":{"@type":"ImageObject","@id":"\/logo.png","url":"\/logo.png","width":600,"height":60}},"url":"https:\/\/www.zmmodel.cz\/alportuv-syndrom\/","wordCount":418,"articleBody":"\u017dijeme sice v 21. stolet\u00ed pln\u00e9 p\u0159evratn\u00fdch vyn\u00e1lez\u016f a pokrok\u016f ve v\u0161ech v\u011bdn\u00edch oblastech lidsk\u00e9ho z\u00e1jmu. P\u0159esto st\u00e1le existuj\u00ed nemoci, syndromy, kter\u00e9 dne\u0161n\u00ed medic\u00edna neum\u00ed l\u00e9\u010dit, nebo nezn\u00e1 p\u0159\u00ed\u010diny jejich vzniku, um\u00ed jejich \u00fa\u010dinky pouze odd\u00e1lit \u010di zm\u00edrnit bolest.\u00a0Za n\u011bkter\u00e9 nemoci si tzv. m\u016f\u017eeme sami \u0161patn\u00fdm \u017eivotn\u00edm stylem – kou\u0159en\u00ed, pit\u00ed alkoholu, sedav\u00fd zp\u016fsob \u017eivota, absence sportu. N\u011bkter\u00e9 nemoci a \u00farazy se objev\u00ed po nehod\u011b nebo nenad\u00e1l\u00e9 situaci v podob\u011b mrtvic, infarkt\u016f, velk\u00e9ho stresu \u010di pod vlivem jin\u00e9 \u201cban\u00e1ln\u00ed\u201d nemoci. S posledn\u00ed skupinou nemoc\u00ed se rod\u00edme, obvykle se jedn\u00e1 o n\u011bjakou genovou mutaci v na\u0161em t\u011ble.\u00a0Dne\u0161n\u00ed prenat\u00e1ln\u00ed medic\u00edna je vysp\u011bl\u00e1 a dok\u00e1\u017ee odhalit na ultrazvuku, p\u0159\u00edpadn\u011b z odebran\u00e9 plodov\u00e9 vody, celou \u0159adu vrozen\u00fdch chorob – jako je nap\u0159\u00edklad Down\u016fv syndrom, roz\u0161t\u011bpy t\u011bla apod. Zdaleka ale nen\u00ed v sil\u00e1ch doktor\u016f rozpoznat v\u0161echna nebezpe\u010d\u00ed, a proto se m\u016f\u017eeme setkat v bl\u00edzk\u00e9m ale i ve vzd\u00e1len\u00e9m okol\u00ed s osobou, kter\u00e1 trp\u00ed n\u011bjak\u00fdm syndromem. Pro tento \u010dl\u00e1nek jsme si vybrali tzv. Alport\u016fv syndrom, proto\u017ee nen\u00ed p\u0159\u00edli\u0161 zn\u00e1m\u00fd a d\u0159\u00edve (\u0159ekn\u011bme stolet\u00ed dv\u011b dozadu) se jednalo o smrt\u00edc\u00ed onemocn\u011bn\u00ed pro mu\u017ee.\u00a0\tP\u0159\u00edznaky syndromuOnemocn\u011bn\u00ed se vyzna\u010duje chyb\u011bj\u00edc\u00ed b\u00edlkovinou v n\u011bkter\u00fdch org\u00e1nech, \u010d\u00edm\u017e je sn\u00ed\u017eena nebo naru\u0161ena jejich funk\u010dnost. Mezi hlavn\u00ed p\u0159\u00edznaky pak pat\u0159\u00ed:1.\u00a0\u00a0\u00a0\u00a0\u00a0 nedosl\u00fdchavost,2.\u00a0\u00a0\u00a0\u00a0\u00a0 tvorba \u0161ed\u00fdch z\u00e1kal\u016f,3.\u00a0\u00a0\u00a0\u00a0\u00a0 hor\u0161\u00ed elasticita k\u016f\u017ee – probl\u00e9my se striemi, praskaj\u00edc\u00ed k\u016f\u017ee,4.\u00a0\u00a0\u00a0\u00a0\u00a0 zhor\u0161en\u00e1 funkce ledvin vedouc\u00ed a\u017e k jejich selh\u00e1n\u00ed, p\u0159\u00edpadn\u011b se projevuje p\u0159\u00edtomnosti krve a b\u00edlkoviny v mo\u010di.\u00a0Diagn\u00f3za Alport\u016fv syndrom se potvrzuje biopsi\u00ed ledvin, kdy z tk\u00e1n\u011b se ur\u010d\u00ed, zda pacient m\u00e1 skute\u010dn\u011b dan\u00fd syndrom.\u00a0Onemocn\u011bn\u00edm trp\u00ed p\u0159ibli\u017en\u011b jeden \u010dlov\u011bk z 30 tis\u00edc. Neexistuje \u017e\u00e1dn\u00e1 l\u00e9\u010dba, pouze p\u0159\u00edpadn\u00e9 pod\u00e1v\u00e1n\u00ed l\u00e9ku, dial\u00fdza ledvin nebo jejich transplantace. Pacient by m\u011bl doch\u00e1zet na pravideln\u00e9 kontroly na nefrologii, kde je zkoum\u00e1na mo\u010d za posledn\u00edch 24 hodin.\u00a0\u00a0Zvl\u00e1\u0161tnost\u00ed je, \u017ee nemoc m\u00e1 hor\u0161\u00ed projevy u mu\u017e\u016f ne\u017e \u017een, kde postupn\u011b doch\u00e1z\u00ed k rychlej\u0161\u00edmu selh\u00e1v\u00e1n\u00ed funk\u010dnosti ledvin. Nen\u00ed v\u00fdjimkou ani ohluchnut\u00ed na st\u00e1\u0159\u00ed.                                                                                                                                                                                                                                                                                                                                                                                                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