13 KB68 KB13 KB192920262004Mrvič, TatjanaPavlin, Tatjanaštevilka:12letnik:73str. 905-906ISSN:1318-0347COBISSID:19101657URN:URN:NBN:SI:doc-CK1EFTNWslSlovensko zdravniško društvoZdravniški vestnikalbinizemanemijababyChediak-Hagashijev sindromChediak-Higashi SyndromeDiagnosisDojenčekInfantinfekcijeTherapyzdravljenjeSindrom Chediak-Higashi pri 15-mesečnem dečku| Chediak-Higashi syndrome in 15 months old boy|Background. Syndrome Chediak-Higashi (SCH) is a rare autosome recesive hereditary disorder characterized by abnormal intracellular protein transport A prominent feature of this disease is the accumulation of enlarged cytoplasmic granules in a variety of cells with damaging their functions. The condition is characterized by increased susceptibility for infections because of disturbance in degranulation of neutrophils, impaired chemotaxis and bactericidal activity, abnormal natural killer cell function, bleeding as a result of deficient platlet dense bodies, partial oculocutaneous albinism and progressive peripheral neuropathy. The disease is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase with nonmalignant lymphohistiocytic infiltrates of various organs. An accelerated phase occurs in more than 80% of patients and it is manifested by pancytopenia, hypertriglyceridemia and bleeding disorders. Remissions, which are usually only transient in this stage of the disease, are reached with combined treatment comprising etoposide, steroids and methotrexate. The only therapeutic strategy capable of curing the disease is bone marrow transplantation. Methods and patients. We introduce a boy, who was treated forrecurrent bacterial infections as an infant. He also had an oculocutaneous albinism and a neurologic involvement Atthe age 15 months diagnosis of SCH in accelerated phase with involvement of liver, spleen lymph nodes, bone marrow and brain was made. Remission o f the disease was achieved by combined treatment with etoposide, steroids and methotrexate. Conclusions. This articleis the first description of a patient with SCH in Slovenia. We also describe efficient treatment of accelerated phase of the disease which led to remissionIzhodišča. Sindrom Chediak-Higashi (SCH) je redka avtosomno-recesivna dedna bolezen za katero je značilen moten znotrajcelični prenos proteinov. Kaže se skopičenjem velikih citoplazemskih zrnc v različnih vrstah celic, kar vodi do okvare teh celic. Za bolezen so značilni povečana dovzetnost za okužbe zaradi motnje v degranulaciji nevtrofilcev, motnji kemotakse in baktericidne aktivnosti, motnja delovanja naravnih celic ubijalk, krvavitve zaradi motenegazlepjanja trombocitov, delni okulokutani albinizem inprogresivna periferna nevropatija. Smrt je pogosta že v otroštvu zaradi okužb ali zaradi pospešenega poteka bolezni (limfomu podobnega sindroma), pri kateri pride do nemaligne limfohistiocitne infiltracije številnih organov. Pospešeni potek bolezni se razvije pri več kot 80% bolnikov in zanj so značilne pancitopenija,hipertrigliceridemija in krvavitve. Remisijo bolezni, ki pa je po navadi le začasna, dosežemo s kombiniranim zdravljenjem z etopozidom, glukokortikoidi in intratekalnim dajanjem metotreksata. Bolniki lahko popolnoma ozdravijo le s presaditvijo krvotvornih matičnih celic. Prikaz bolnika. Predstavljamo dečka ki smo ga kot dojenčka večkrat zdravili zaradi bakterijskih okužb in je imel ugotovjen okulokutani albinizem ter nevrološko prizadetost. V starosti 15 mesecev so potrdili diagnozo SCH v pospešenem obdobju bolezni s prizadetostjo jeter, vranice, bezgavk, kostnega mozga in možganov. Remisijo bolezni so dosegli s kombiniranim zdravljenjem z etopozidom, glukokortikoidi in metotreksatom. Zaključki. Prispevek je prvi opis bolnika s SCH v Sloveniji in opis uspešnega zdravljenja pospešene faze bolezniTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaSlovensko zdravniško društvo