Prikaz primera / Case report
SHWACHMAN-DIAM21'296,1'520í35,.$='9(+
PRIMEROV
SHWACHMAN DIAMON'6<1'520(í7:2&$6(5(32576
0%UDWNRYLþ95DMLü0+RPDQ3
3HGLDWULþQDNOLQLND8QLYHU]LWHWQLNOLQLþQLFHQWHU/MXEOMDQD/MXEOMDQD
.OLQLþQLRGGHOHN]DRQNRORJLMRLQKHPDWRORJLMR3HGLDWULþQDNOLQLND8QLYHU]LWHWQLNOLQLþQL FHQWHU/MXEOMDQD/MXEOMDQD
.OLQLþQLRGGHOHN]DSHGLDWULþQRJDVWURHQWHURORJLMRKHSDWRORJLMRLQQXWULFLRQLVWLNR 3HGLDWULþQDNOLQLND8QLYHU]LWHWQLNOLQLþQLFHQWHU/MXEOMDQD/MXEOMDQD
,=9/(ý(.
6KZDFKPDQ'LDPRQGRYVLQGURPMHUHGNDDYWRVRPQRUHFHVLYQDPRWQMD=DQMRMH]QDþLOQDHNVRNULQDLQVX¿- FLHQFDWUHEXãQHVOLQDYNHPRWHQRGHORYDQMHNRVWQHJDPR]JDQDJQMHQRVWNUD]YRMXPLHORGLVSODVWLþQHJDVLQ- GURPDLQKHPDWRORãNLKPDOLJQRPRYWHUNRVWQHQHSUDYLOQRVWL3UL]DGHWLVRODKNRWXGLGUXJLRUJDQLQSUMHWUD ]REMHVUFHLQNRåD2WURFLLPDMRODKNRXþQHWHåDYHLQPRWQMHYGXãHYQHPUD]YRMX3RQDãLKSRGDWNLKåLYLWD Y6ORYHQLMLGYDRWURNDV6KZDFKPDQ'LDPRQGRYLPVLQGURPRP3ULPHUDVPRRSLVDOLYQDãHPSULVSHYNX .OMXþQHEHVHGH6KZDFKPDQ'LDPRQGRYVLQGURPHNVRNULQDLQVX¿FLHQFDWUHEXãQHVOLQDYNHQHYWURSH- QLMDPLHORGLVSODVWLþQLVLQGURP
ABSTRACT
6KZDFKPDQ'LDPRQGV\QGURPHLVDUDUHDXWRVRPDOUHFHVVLYHGLVRUGHUFKDUDFWHUL]HGE\H[RFULQHSDQFUHDWLF LQVXI¿FLHQF\ ERQH PDUURZ G\VIXQFWLRQ SUHGLVSRVLWLRQ WR P\HORG\VSODVWLF V\QGURPH DQG KDHPDWRORJLFDO PDOLJQDQFLHVDQGVNHOHWDODEQRUPDOLWLHV$GGLWLRQDORUJDQVFDQEHDIIHFWHGVXFKDVWKHOLYHUWHHWKKHDUWDQG VNLQ&KLOGUHQPD\KDYHOHDUQLQJGLI¿FXOWLHVDQGLPSDLUHGSV\FKRORJLFDOGHYHORSPHQW7KHWZRFKLOGUHQZLWK 6KZDFKPDQ'LDPRQGV\QGURPHFXUUHQWO\EHLQJWUHDWHGLQ6ORYHQLDDUHGHVFULEHGLQWKLVDUWLFOH
.H\ZRUGV6KZDFKPDQ'LDPRQGV\QGURPHH[RFULQHSDQFUHDWLFLQVXI¿FLHQF\QHXWURSHQLDP\HORG\- VSODVWLFV\QGURPH
6ORY3HGLDWU
6ORY3HGLDWU
UVOD
6NXSLQL ]GUDYQLNRY SRG YRGVWYRP + 6KZDFKPD- QDLQ/.'LDPRQGDWHU0%RGLDQDVWDOHWD SUYLþRSLVDOLVLQGURPNLVHNDåH]PRWQMDPLYHN- VRNULQHP GHORYDQMX WUHEXãQH VOLQDYNH LQ NRVWQHJD PR]JD WHU V SRJRVWR SULGUXåHQLPL NRVWQLPL QHSUD- YLOQRVWPL 6KZDFKPDQ'LDPRQGRY VLQGURP 6'6MHUHGNDDYWRVRPQRUHFHVLYQDPRWQMD20,0
=DQMRVR]QDþLOQHPRWQMHYHNVRNULQHP GHORYDQMXWUHEXãQHVOLQDYNHLQNRVWQHJDPR]JDQH- SUDYLOQRVWLRNRVWMDQL]NDUDVWWHUYHþMHWYHJDQMH]D SRMDYPLHORGLVSODVWLþQHJDVLQGURPD0'6LQDNX- WQHPLHORLþQHOHYNHPLMH$0/3UL]DGHWLVRODKNR WXGL ãWHYLOQL GUXJL RUJDQL QSU MHWUD VUFH OHGYLFH ]REMH LQ NRåD 3UL PDMKQLK RWURFLK VR SRJRVWR SR- YLãDQHYUHGQRVWLMHWUQLKWUDQVDPLQD]LQWLSQRDOLXO- WUD]YRþQRSRYHþDQDMHWUD5HGNRXJRWDYOMDPRWXGL DQDWRPVNHQHSUDYLOQRVWLVHþLOLQPRWQMHYGHORYDQMX OHGYLF .UþOMLYRVW OHYHJD VUþQHJD SUHNDWD MH ODKNR blago oslabljena. Otroci so nagnjeni k nastanku zob- QHJQLOREH1DNRåLVHODKNRSRMDYLL]SXãþDM 2WURFLLPDMRODKNRNRJQLWLYQHLQYHGHQMVNHWHåDYH 6'6MH]DFLVWLþQR¿EUR]RGUXJLQDMSRJRVWHMãL dedni vzrok motenj v eksokrinem delovanju trebu- ãQH VOLQDYNH QDWDQþQH LQFLGHQFH EROH]QL SD ãH QH poznamo.
/HWDVRQDNURPRVRPXRGNULOLJHQSBDS in JDSRLPHQRYDOLSR+6KZDFKPDQX0%RGLDQXLQ /.'LDPRQGX*HQNRGLUDEHOMDNRYLQR]DPL- QRNLVOLQDPLNLRSUDYOMD]D]GDMãHQH]QDQRIXQNFL- jo. Beljakovina naj bi igrala pomembno vlogo pri GR]RUHYDQMX ULERVRPRY 9VHK PXWDFLM JHQDSBDS ãHQHSR]QDPR]DWRVRJHQHWVNLWHVWLOHYSRPRþSUL GLDJQRVWLFLUDQMXEROH]QL%ROQLNLVWLSLþQRNOL- QLþQRVOLNRSULNDWHULPXWDFLMHãHQH]QDPRGRORþLWL LPDMR SUDYLORPD WHåMR REOLNR KHPDWRORãNH EROH]QL LQEODåMRLQVX¿FLHQFRWUHEXãQHVOLQDYNH
.OLQLþQDVOLNDEROH]QLMH]HORKHWHURJHQDLQVHVSUH- PLQMDVVWDURVWMR1RYRURMHQþNLLPDMRQLåMRSRURGQR WHåRLQGROåLQR3ULVRWQLKMHOHPDORVLPSWRPRYLQ ]QDNRYNLMLKXJRWDYOMDPRNDVQHMH3ULGRMHQþNX LQPDOþNXVRYRVSUHGMX]QDNLPDODEVRUSFLMHGLVWUR-
¿MHLQQL]NHUDVWL=QDþLOQHVRSRQDYOMDMRþHVHLQWHå-
NRSRWHNDMRþHEDNWHULMVNHRNXåEHYQHWMHVUHGQMHJD XãHVDSOMXþQLFDDEVFHVLRVWHRPLHOLWLVVHSVD0HG L]YLGLL]VWRSDQHYWURSHQLMDODKNRSDMHSULVRWQDWXGL SDQFLWRSHQLMD5HGNHMHVHEROH]HQSRNDåHãHOHY GUXJHPGHVHWOHWMXDOLNDVQHMH
PRIKAZ PRIMEROV 3ULPHU
1D.OLQLþQHPRGGHONX]DJDVWURHQWHURORJLMRKHSD- WRORJLMR LQ QXWULFLRQLVWLNR 3HGLDWULþQH NOLQLNH VPR na nadaljnje diagnosticiranje okvare jeter in slab- ãHJDSULGRELYDQMDWHOHVQHWHåHVSUHMHOLPHVHþQR deklico.
9GUXåLQLQHQDYDMDMREROH]QLMHWHUSUHEDYLOLQKH- PDWRORãNLKEROH]QL'HNOLFDMHELODURMHQDSRPDWH- ULQLSUYLQRVHþQRVWL9WHGQXQRVHþQRVWLVR]8=
ugotovili zastoj rasti ploda. Porod je nastopil tri dni SUHGL]UDþXQDQLPURNRP2EURMVWYXMHGHNOLFDWHK- WDODJUDPRYíSHUFHQWLOGROJDMHELOD FHQWLPHWURY í SHUFHQWLO %ODWR MH RGYDMDOD GRNUDWGQHYQR%LORMHPHKNHMãHNRQVLVWHQFH RELOQRLQ]REþDVQRYLGQLPLPDãþREQLPLNDSOMLFDPL Do sprejema je trikrat prebolela akutno vnetje sre- GQMHJD XãHVD UD]YLO VH MH WXGL RJQRMHN Y OHYL SD]- duhi.
9UHJLRQDOQLEROQLãQLFLVRMRSULVWDURVWLWUHKPHVH- cev obravnavali zaradi nezadostnega pridobivanja WHOHVQH WHåH LQ EOHGLFH 8JRWRYLOL VR VODERNUYQRVW +EJO0&9À]DWRMHSUHMHODMHWUDQVIX- zijo koncentriranih eritocitov. Poleg slabokrvnosti VRXJRWRYLOLWXGLQHYWURSHQLMRLQSRYLãDQHYUHGQRVWL MHWHUQLKWUDQVDPLQD],]NOMXþLOLVRRNXåERVKHSDWR- WURSQLPLYLUXVL9UHGQRVWLDOIDDQWLWULSVLQDEDNUD YSOD]PL/'+IROQHNLVOLQHLQYLWDPLQD%VRELOH YPHMDKQRUPDOQLKYUHGQRVWL&RRPEVRYWHVWMHELO negativen.
âWLUL PHVHFH NDVQHMH VR MR VSUHMHOL QD ,QIHNFLMVNL NOLQLNL ]DUDGL VODERNUYQRVWL LQ RNYDUH MHWHU =DUDGL SRGDOMãDQLKþDVRYVWUMHYDQMDNUYLMHSUHMHODYLWDPLQ . âH YHGQR MH ELOD SULVRWQD QHYWURSHQLMD 3URWLWH- lesa proti jedrnim antigenom so bila negativna. Ul- WUD]YRþQDSUHLVNDYDWUHEXKDQLSRND]DODRGVWRSDQM
1DSUDYLOLVRWXGLLJHOQRELRSVLMRMHWHUNLMHSRND]DOD PDãþREQRLQ¿EUR]QRVSUHPHQMHQRVWUXNWXURMHWUQH- ga parenhima.
=DUDGLPRåQRVWLSUHVQRYQHRNYDUHMHWHUVRGHNOLFR VSUHMHOLQD.OLQLþQLRGGHOHN]DHQGRNULQRORJLMRGL- DEHWHV LQ SUHVQRYQH EROH]QL 3HGLDWULþQH NOLQLNH 6 SUHLVNDYDPLVRL]NOMXþLOLSUHVQRYQHEROH]QL 2EVSUHMHPXQDJDVWURHQWHURORãNLRGGHOHNMHíSUL VWDURVWL PHVHFHY í WHKWDOD JUDPRY JUDPRYSRGSHUFHQWLORPYYLãLQRMHPHULOD FHQWLPHWURYFPSRGSHUFHQWLORP.RåDVWHJHQ LQ SRGODNWRY MH ELOD VXKD LQ KUDSDYD SUVQL NRã MH ELO RåML LQ SURPLQHQWHQ 7LSHQ MH ELO URE MHWHU GYD FHQWLPHWUDSRGHVQLPUHEUQLPORNRP6LFHUNOLQLþQL status ni odstopal od normalnega.
9 KHPRJUDPX ] GLIHUHQFLDOQR NUYQR VOLNR MH ELOD SULVRWQDQHYWURSHQLMDDEVROXWQRãWHYLORQHYWUR¿OFHY íPP3VODERNUYQRVW+EíJO0&9 íÀLQWURPERFLWRSHQLMDãWHYLORWURPERFLWRY
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=DUDGL SRGDWND R SRJRVWHP LQ RELOQHP RGYDMDQMX PDVWQHJDLQVPUGHþHJDEODWDVPRRSUDYLOLSUHLVND- YHVNDWHULPLVPRåHOHOLGRND]DWLVODEãHGHORYDQMH WUHEXãQHVOLQDYNH3UHJOHGEODWDQDSUHEDYOMLYRVWMH SRND]DOSULVRWQRVWPDãþRE9UHGQRVWLDPLOD]HLQOL- SD]H Y VHUXPX VWD ELOL ]QLåDQL ] XUQLP PHUMH- QMHPPDãþREYEODWXSDVPRSRWUGLOLVWHDWRUHMR9UH- GQRVWSDQNUHDWLþQHHODVWD]HYEODWXMHELOD]QLåDQD ]QLåDQHSDVRELOHWXGLYUHGQRVWLYPDãþREDKWRSQLK YLWDPLQRY1DSRGODJLQRUPDOQLKL]YLGRYLRQWRIRUH- ]HVPRL]NOMXþLOLSULVRWQRVWFLVWLþQH¿EUR]H 3RYLãDQHVRELOHYUHGQRVWLMHWUQLKWUDQVDPLQD]$67 NDWO$/7 NDWO Ȗ*7 NDWO RE sicer ohranjeni funkciji jeter.
=DUDGLPRåQRVWL6'6VPRRSUDYLOLUHQWJHQVNRVOL- kanje okostja in ugotovili primerno skeletno starost LQUD]ãLUMHQRVWHJQHQLFRYGLVWDOQHPGHOX
=DVSLUDFLMVNRELRSVLMRNRVWQHJDPR]JDVPRXJRWR- YLOLKLSRSODVWLþQRVWNRVWQHJDPR]JDEUH]REURþDVWLK sideroblastov in brez izrazite vakuolizacije ter brez ]QDþLOQRVWL]D3HDUVRQRYVLQGURP6OLND
.OLQLþQL VXP QD 6'6 VPR SRWUGLOL ] PROHNXODU- QRJHQHWVNR DQDOL]R NUYL NL MH SRND]DOD PXWDFLML F7$!&7LQF7!&YJHQX6%'6QD
NURPRVRPXT
2EQDGRPHãþDQMXHQFLPRYWUHEXãQHVOLQDYNHWHUY PDãþREDK WRSQLK YLWDPLQRY ]GUDYOMHQMX ] XUVRGH- RNVLKROQR NLVOLQR LQ XåLYDQMX KLSHUNDORULþQLK SUH- KUDQVNLK GRGDWNRY MH GHNOLFD SULþHOD SULGRELYDWL WHOHVQRWHåR7HOHVQDYLãLQDVHMHL]EROMãDODOHGHO- QR]DWRVPRSULVWDURVWLSHWOHWXYHGOL]GUDYOMHQMH]
UDVWQLPKRUPRQRP'HNOLþLQDYLãLQDLQWHåDVWDQD íSHUFHQWLOQLNULYXOML]DVWDURVW
=DUDGLYURþLQVNHJDVWDQMDRE]PHUQLQHYWURSHQLMLVR GHNOLFRYHþNUDWREUDYQDYDOLYUHJLRQDOQLEROQLãQLFL 3UHEROHOD MH EURQKRSQHYPRQLMR EURQKLROLWLV SRY- ]URþHQ]UHVSLUDWRUQLPVLQFLFLMVNLPYLUXVRPWHåNR REOLNR DIWR]QHJD VWRPDWLWLVD ]DUDGL RNXåEH ] YLUX- som herpes simpleks in pandemsko gripo. Odstrani- OLVRMLåUHOQLFR=DUDGLSRJRVWLKWHåNLKREOLNVWUHS- WRNRNQHDQJLQHQDþUWXMHMRWXGLRGVWUDQLWHYQHEQLF Bolnica prihaja na redne preglede v gastroentero- ORãNRDPEXODQWRYVDNLKãHVWPHVHFHY9NRQWUROQLK izvidih krvne slike vztrajajo levkopenija z zmerno QHYWURSHQLMR]PHUQDWURPERFLWRSHQLMDLQEODJDPD- krocitna anemija.
Redno hodi na preglede k zobozdravniku in derma- WRORJXNLMRREUDYQDYD]DUDGLOXVNDYLFH
3ULPHU
1D .OLQLþQL RGGHOHN ]D JDVWURHQWHURORJLMR KHSD- WRORJLMR LQ QXWULFLRQLVWLNR 3HGLDWULþQH NOLQLNH VPR zaradi suma na malabsorpcijo sprejeli triletnega GHþND
5RGLO VH MH SR PDWHULQL SUYL QRVHþQRVWL VSRþHW V SRVWRSNRPXPHWQHRSORGLWYH,9)5RGLOVHMHRE URNXLQREURMVWYXWHKWDOJUDPRYSHUFHQWLO YGROåLQRSDPHULOFHQWLPHWURYSHUFHQWLOD 8JRWRYLOLVRSDODWRVKL]RNLVRMRRSHULUDOLSULVWDUR- VWLWUHKOHWWHUOHYRVWUDQVNRDWUH]LMRQRVQLKãNROMN kar obravnava otorinolaringolog.
3UL VWDURVWL QHNDM PHVHFHY MH ]EROHO ]D DWRSLþQLP dermatitisom. Potrdili so alergijo na beljakovine NUDYMHJDPOHNDLQMDMFDNLSDMHVþDVRPDL]]YHQHOD .DVQHMHMHSRVWDOSUHREþXWOMLYQDãWHYLOQHLQKDODFLM- VNHDOHUJHQHLQDUDãLGH]DWRUHGQRRELVNXMHDOHUJR- ORãNRDPEXODQWR
6ORY3HGLDWU
3RJRVWR MH SUHEROHYDO YQHWMD VUHGQMHJD XãHVD LQ YURþLQVND VWDQMD ] ]QDNL RNXåEH ]JRUQMLK LQ VSR- dnjih dihal.
Med prebolevanjem obojestranskega otitisa so pri VWDURVWLGYHKOHWXJRWRYLOLSRYLãDQHYUHGQRVWLMHWU- QLK HQFLPRY 9 UHJLRQDOQL EROQLãQLFL VR L]NOMXþLOL RNXåERVKHSDWRWURSQLPLYLUXVL
9HþNUDWMHWRåLO]DEROHþLQDPLYWUHEXKXLPHOMHVODE- ãLWHNVWDUãLSDVRREþDVQRRSDåDOLVOX]DYREODWR 2EVSUHMHPXQD.OLQLþQLRGGHOHN]DJDVWURHQWHUROR- JLMRKHSDWRORJLMRLQQXWULFLRQLVWLNR3HGLDWULþQHNOLQL- NHVWDELOLWHOHVQDWHåDLQYLãLQDSULPHUQL]DVWDURVW9 somatskem statusu ni bilo odstopanj od normalnega VWDQMD,]YLGLRSUDYOMHQLKSUHLVNDYVRSRND]DOL]YLãD- ne vrednosti jetrnih encimov in pozitivno serologijo QD FHOLDNLMR 8YHGOL VR EUH]JOXWHQVNR GLHWR þHSUDY V KLVWRORãNLP SUHJOHGRP VOX]QLFH GYDQDMVWQLND JOX- tenske enteropatije niso potrdili. Ob uvedbi diete je EODWRSRVWDORQRUPDOQHNRQVLVWHQFHYUHGQRVWLMHWUQLK WUDQVDPLQD] SD VH QLVR QRUPDOL]LUDOH 8OWUD]YRþQD SUHLVNDYDWUHEXKDMHSRND]DODEROMHKRJHQRWUHEXãQR VOLQDYNR 9]URND ]D RNYDUR MHWHU ] GRGDWQLPL SUHL- VNDYDPLQLVRQDãOL,]NOMXþLOLVRDYWRLPXQVNREROH]HQ MHWHUSUHVQRYQHEROH]QLLQFLVWLþQR¿EUR]R
3RYLãDQR YUHGQRVW OLSD]H VR SUYLþ ]DEHOHåLOL SUL VWDURVWL ãHVW OHW LQ SRO 9UHGQRVWL MHWUQLK encimov
VR ELOH ãH YHGQR QHNROLNR SRYLãDQH 2SUDYOMHQD PDJQHWQRUHVRQDQþQD KRODQJLRSDQNUHDWRJUD¿MD MH SRND]DOD VSUHPHPEH SDQNUHDWLþQLK YRGRY NL VR ]QDþLOQH]DNURQLþQLSDQNUHDWLWLV6WHDWRUHMHYEODWX niso dokazali.
=DUDGL EODJH PLNURFLWQH DQHPLMH MH SUL VWDURVWL WUL OHWDLQSRO]DþHOSUHMHPDWLSULSUDYNHåHOH]D9UHGQR- sti hemoglobina so se normalizirale.
9NUYQLKL]YLGLKVPRRSDåDOLOHYNRSHQLMR]QDMQLåMR YUHGQRVWMR OHYNRFLWRY [/l in trombocitope- QLMR ] QDMQLåMLP ãWHYLORP WURPERFLWRY [/l.
1HYWURSHQLMDMHELODYHþLQRPD]PHUQDOHQHNDMNUDW WHåND V ãWHYLORP QHYWUR¿OFHY PDQM NRW PP3. 2EþDVQRMHELODSULVRWQDWXGLPDNURFLWR]DEUH]DQH- PLMH9UHGQRVWLIROQHNLVOLQHLQYLWDPLQD%VWDELOL YQRUPDOQHPREPRþMX9VHUXPXQLELORSULVRWQLK SURWLWHOHVSURWLQHYWUR¿OFHP
=DUDGLXJRWRYOMHQLKVSUHPHPEYNUYQLVOLNLVRGHþ- NDREUDYQDYDOLWXGLKHPDWRRQNRORJL=DVSLUDFLMVNR ELRSVLMRNRVWQHJDPR]JDVRXJRWRYLOLKLSRSODVWLþQL kostni mozeg z nekaterimi dismorfnimi znaki eritro- in mielopoeze. Citogenetska preiskava je pokazala SRMDYOMDQMHL]RNURPRVRPD=DQDOL]RNURPRVRP- VNLKORPRYVRL]NOMXþLOL)DQFRQLMHYRDQHPLMR .OLQLþQLVXPQD6'6VPRSRWUGLOL]PROHNXODUQRJH- QHWVNRDQDOL]RNUYLNLMHSRND]DODSULVRWQRVWPXWD-
6OLND+LSRSODVWLþHQNRVWQLPR]HJSRYHþDYD[
)LJXUH+\SRSODVWLFERQHPDUURZPDJQLILFDWLRQ[
FLMF7$!&7LQF7!&YJHQX6%'6 QDNURPRVRPXT
8OWUD]YRþQDSUHLVNDYDMHSRWUGLODQRUPDOQRIXQNFL- jo in strukturo srca.
)DQW MH VLFHU DNWLYHQ ãSRUWQLN LQ QLPD V SUHEDYLOL SRYH]DQLK WHåDY MH SULPHUQR UD]YLW LQ SUHKUDQMHQ vrednosti jetrnih encimov in lipaze pa so se norma- OL]LUDOH âH YHGQR XåLYD SUHKUDQR EUH] JOXWHQD LQ RUHãþNRY 5HGQR SULKDMD QD SUHJOHGH Y$PEXODQWR ]DKHPDWRORJLMRLQRQNRORJLMRQDWULPHVHFHWHUY JDVWURHQWHURORãNRDPEXODQWRQDPHVHFHY9NRQ- trolnih izvidih krvne slike vztrajata blaga levkopenija z zmerno nevtropenijo ter zmerna trombocitopenija.
RAZPRAVLJANJE
.OLQLþQL ]QDNL 6'6 VR ]HOR UD]QROLNL 3RVHEQR SUL VWDUHMãLKRWURFLKSULNDWHULKMHVWHDWRUHMDåHL]]YHQHOD QHYWURSHQLMDSDMHSULVRWQDOHREþDVQRMHGLDJQRVWL- FLUDQMHEROH]QL]HOR]DKWHYQR9SRPRþVRQDP GLDJQRVWLþQDPHULODNLMLKSULND]XMHPRY7DEHOL 3UL GLDJQRVWLFLUDQMX QDP SRPDJDMR ]QDþLOQH VSUH- PHPEHQDNRVWHKSUHGYVHPPHWD¿]QHGL]RVWR]H 1RYRURMHQþNLLPDMRQLåMRSRURGQRWHåRLQGROåLQR JOHGH QD YUVWQLNH 3UL GRMHQþNX VH SRMDYLMR ]QDNL
PDODEVRUSFLMH SRGKUDQMHQRVW LQ QHXVSHYDQMH WHU SRQDYOMDMRþHVHRNXåEH3RYSUHþQDVWDURVWSUL NDWHULVHSRMDYLMR]QDNLLQVLPSWRPL6FKZDFKPDQ- 'LDPRQGRYHJDVLQGURPDMHPHVHFDNHUMHGLD- JQRVWLFLUDQMH]DKWHYQREROH]HQYSRYSUHþMXSUHSR- ]QDPRãHOHSULOHWXVWDURVWL
(NVRNULQDLQVX¿FLHQFDWUHEXãQHVOLQDYNHMHSRVOHGL- FDPRWQMHYUD]YRMXDFLQXVRY6KLVWRORãNLPSUHJOH- GRPXJRWDYOMDPRRKUDQMHQHYRGHLQRWRþNHWUHEX- ãQHVOLQDYNHâWHYLORDFLQXVQLKFHOLFMH]PDQMãDQR LQ QDGRPHãþD MLK PDãþREQR WNLYR9HþLQD GRMHQþ- NRYLPDVWHDWRUHMRGHORYDQMHWUHEXãQHVOLQDYNHSD VHSULSRORYLFLEROQLNRY]OHWLL]EROMãD1DGRPHãþD- QMHHQFLPRYLQYPDãþREDKWRSQLKYLWDPLQRYWDNR QL YHþ SRWUHEQR9UHGQRVWL SDQNUHDWLþQLK HQFLPRY RVWDMDMRQLåMHNDUQDPODKNRSRPDJDSULGLDJQRVWL- FLUDQMXEROH]QLSULVWDUHMãLKRWURFLKNRVRNOLQLþQL VLPSWRPLåHL]]YHQHOL
1H]GUDYOMHQDLQVX¿FLHQFDWUHEXãQHVOLQDYNHSULYH- GH GR SRPDQMNDQMD Y PDãþREDK WRSQLK YLWDPLQRY LQPRWHQMVWUMHYDQMDNUYL=DUDGLSRGDOMãDQLKWHVWRY VWUMHYDQMDNUYLMHQDãDEROQLFDSULVWDURVWLPHVHFHY prejela vitamin K.
3ULQDãHPEROQLNX]JHQHWVNRSRWUMHQLP6'6VRELOH YUHGQRVWLOLSD]HYVHUXPXYQHNDMOHWQHPþDVRYQHP
,]SROQMHQLPRUDWDELWLYVDMRGQDYHGHQLKPHULO 1. PHULORSULVRWQRVWYVDMGYHKRGQDãWHWLK]QDNRY
a. NURQLþQDFLWRSHQLMD±FLWRSHQLMDXJRWRYOMHQDYVDMNUDWYREGREMXYVDMPHVHFHY b. ]PDQMãDQRãWHYLORSURJHQLWRUQLKFHOLFYNRVWQHPPR]JX
c. WUDMQR]YLãDQHYUHGQRVWLKHPRJORELQD)L]PHUMHQHYVDMNUDWYUD]PLNXYVDMPHVHFHYREL]NOMXþLWYLSULVRWQRVWLKHPRJOR- ELQRSDWLM]QHXþLQNRYLWRHULWURSRH]RLQYLVRNLP+E)
d. Y]WUDMDMRþDHULWURFLWQDPDNURFLWR]DL]PHUMHQDYVDMNUDWYUD]PLNXYVDMPHVHFHYREL]NOMXþLWYLPDNURFLWR]HNLMHSRVOH- dica hemolize ali prehranskih primanjkljajev.
2. PHULORSULVRWQRVWYVDMHQHJDRGQDãWHWLK]QDNRY
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3. merilo: pozitivni genetski test na SDS;
4. merilo: sorodnik v prvem kolenu s SDS.
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