Kongenitalna trombocitopenija sa nefritisom – prvi bolesnik sa MYH9 poremećajem u Srbiji

  • Miloš Kuzmanović Faculty of Medicine, University of Belgrade, Belgrade, Serbia; †Institute of Mother and Child Health Care of Serbia „Dr Vukan Čupić“, Belgrade, Serbia
  • Shinji Kunishima Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan
  • Jovana Putnik Institute of Mother and Child Health Care of Serbia „Dr Vukan Čupić“, Belgrade, Serbia
  • Nataša Stajić Faculty of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Mother and Child Health Care of Serbia „Dr Vukan Čupić“, Belgrade, Serbia
  • Aleksandra Paripović Institute of Mother and Child Health Care of Serbia „Dr Vukan Čupić“, Belgrade, Serbia
  • Radovan Bogdanović Faculty of Medicine, University of Belgrade, Belgrade, Serbia; Institute of Mother and Child Health Care of Serbia „Dr Vukan Čupić“, Belgrade, Serbia
DOI: https://doi.org/10.2298/2982
Ključne reči: thrombocytopenia||, ||trombocitopenija, nephritis hereditary||, ||nefritis, nasledni, myosin heavy chains||, ||miozin, teški lanci, diagnosis, serbia||, ||dijagnoza, srbija,

Sažetak


Uvod. Grupu autozomno dominantnih poremećaja – Epsteinov sindrom, Sebastianov sindrom, Fechthnerov sindrom i May-Hegglinovu anomaliju – odlikuju trombocitopenija sa džinovskim trombocitima, inkluzije u granulocitima, kao i različita zastupljenost gluvoće, poremećaja vida i funkcije bubrega. Genetska osnova ovih sindroma su mutacije u genu za teški lanac nemišićnog miozina IIA, a za ovu grupu sindroma predložen je naziv bolesti vezane za MYH9. Diferencijalna dijagnoza prema trombocitopenijama druge etiologije je značajna zbog pravilnog izbora terapijskih postupaka. Cilj rada bio je prikaz bolesnika sa MYH9 poremećajem u Srbiji. Prikaz bolesnika. Bolesnik, star 16 godina, sa dijagnozom rezistentne imunske trombocitopenije upućen je radi daljeg lečenja splenektomijom.  Trombocitopenija je otkrivena u petoj godini života rutinskim pregledom krvne slike. U više navrata bolesnik je lečen kortikosteroidima ali bez povoljnog terapijskog odgovora. Iako je broj trombocita najčešće bio manji od 10 × 109/L, nisu se javljali simptomi krvarenja. Pored trombocitopenije sa džinovskim trombocitima, na prijemu su nađeni senzorineuralna gluvoća kao i proteinurija. Dijagnoza je potvrđena imunofluorescentnim nalazom i genetskom analizom. Zaključak. Pravovremeno prepoznavanje poremećaja mutacije MYH9 neophodno je kako bi se izbegli neadekvatni i potencijalno opasni načini lečenja koji se primenjuju kod imunske trombocitopenije. Takođe, odgovarajućom terapijom odlaže se razvoj terminalne bubrežne insuficijencije i poboljšava kvalitet života.

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Objavljeno
2015/04/23
Broj časopisa
Vol. 71 Br. 4 (2014)
Rubrika
Prikaz bolesnika