Title Hemofilije u djece
Title (english) Hemophilia in children
Author Valentina Horvat
Mentor Josip Konja (mentor)
Committee member Ljubica Rajić (predsjednik povjerenstva)
Committee member Marija Jelušić (član povjerenstva)
Committee member Josip Konja (član povjerenstva)
Granter University of Zagreb School of Medicine (Department of Pediatrics) Zagreb
Defense date and country 2014-07-15, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences Pediatrics
Abstract Hemofilija A i hemofilija B su nasljedni poremećaji koagulacije uzrokovani
nedostatkom ili smanjenom aktivnošću faktora VIII, odnosno faktora IX, a očituju se
sklonošću krvarenjima. Nasljeđuju se spolno, X-vezano recesivno i prvenstveno
zahvaćaju dječake. Incidencija hemofilije A je 1 na 5,000 muške novorođenčadi, a
hemofilije B 1 na 30,000 muške novorođenčadi. (Stonebraker, 2010; 2012) Na
temelju razine aktivnosti faktora u krvi, hemofilija se klasificira kao teška (<0.01
IU/dL), umjerena (0.01-0.05 IU/dL) i blaga (0.06-0.40 IU/dL). (Kumar, 2013) Kod
teškog oblika hemofilije karakteristična su spontana krvarenja i krvarenja u zglobove i
meka tkiva, a kod blage i umjerene hemofilije krvarenja nakon kirurških zahvata i
većih trauma. Hemofilija A i B se klinički jednako manifestiraju. Prva krvarenja se
očituju već u novorođenačkoj dobi kao veliki kefalhematomi, produljeno krvarenje iz
pupkovine ili nakon cirkumcizije. Kada dijete počne puzati, stajati i hodati, pojavljuju
se modrice, krvarenja u zglobove i mišiće. Kao posljedica recidivirajućih i neliječenih
hemartroza razvija se hemofilična artropatija i teški deformiteti. Laboratorijska
dijagnoza hemofilije se postavlja na temelju produljenog APTV-a i razine aktivnosti
faktora VIII ili IX u krvi. Najčešća i najteža komplikacija hemofilije je razvoj inhibitora,
čije je liječenje otežano. Profilaktičko liječenje rekombinantnim koncentratom FVIII ili
FIX je danas osnovni način liječenja djece s teškom i umjerenom hemofilijom.
Abstract (english) Hemophilia A and hemophilia B are hereditary, X-chromosomal, recessive
bleeding disorders caused by deficiency or absence of coagulation factors VIII or IX.
The incidence of HA is estimated to be 1 in 5,000 males, whereas that of HB is 1 in
30,000 males. (Stonebraker, 2010; 2012) The disorders are classified into three
categories according to the coagulation factor activity present in blood: severe (<0.01
IU/dL), moderate (0.01-0.05 IU/dL), and mild (0.06-0.40 IU/dL). (Kumar, 2013)
Children with severe hemophilia typically develop spontaneous and recurrent bleeds,
most commonly into joints (hemarthrosis) and muscles, whereas those with mildmoderate
hemophilia tend to experience bleeding related to trauma or surgery.
Clinical manifestations of HA and HB are identical. The first bleeding occur already in
the neonatal period as a massive cephalhematoma, prolonged bleeding from the
umbilical cord or after circumcision. When a child begins to crawl, stand and walk,
bleeding most commonly affects weight-bearing joints and muscles. As a result of
reccurent and untreated hemarthroses develops hemophilic arthropathy and severe
deformities. The diagnosis is suspected in a patients with an elevated APTT and
normal PT and platelet count. It is confirmed by specific factor assays. The most
common and the most serious complication is the development of inhibitors whose
treatment is difficult. Prophylactic treatment with recombinant FVIII or FIX is now the
standard of care for children with severe and moderate hemophilia.
Keywords
hemofilija A
hemofilija B
djeca
hemartroza
inhibitori
profilaksa
Keywords (english)
hemophilia A
hemophilia B
children
hemarthrosis
inhibitors
prophylaxis
Language croatian
URN:NBN urn:nbn:hr:105:609101
Study programme Title: Medicine Study programme type: university Study level: integrated undergraduate and graduate Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2015-10-06 08:12:51