Zatajenje koštane srži kod djece

master's thesis

• Title (english): Bone marrow failure in children
• Author: Klara Bosnić
• Mentor: Ernest Bilić (mentor)
• Committee member: Irena Senečić-Čala (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Ernest Bilić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2022-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Zatajenje koštane srži (ZKS) rijetko je, ali po život opasno stanje karakterizirano hipocelularnom koštanom srži, (pan)citopenijom u perifernoj krvi te izostankom infiltrativne bolesti koštane srži. Nastaje kao posljedica stečenih ili nasljednih bolesti. Stečena aplastična anemija (AA) primarni je uzrok ZKS-a kod djece i odraslih dok su nasljedni sindromi zatajenja koštane srži (IBMF sindromi - Inherited bone marrow syndromes) rjeđi, ali s većom učestalošću kod djece nego kod odraslih. Vrlo je važna rana i pravilna dijagnoza bolesti zbog specifičnog liječenja, praćenja i genetskog savjetovanja pacijenata i njihovih obitelji.
U ovom retrospektivnom istraživanju prikazane su znakovitosti pacijenata i njihove kliničke slike pri prvotnoj prezentaciji aplastične anemije i IBMF sindroma, preživljenje djece ovisno o primjenjivanoj terapiji te komplikacije povezane s terapijom. Ispitivanu skupinu čine 24 pacijenta oboljela od AA i 14 pacijenata s IBMF sindromom.
Od ukupno 24 pacijenta s AA, preživjelo je njih 19 (79,17%). Primarna transplantacija koštane srži bila je uspješna kod četiri od pet pacijenata (80%). Primarna imunosupresivna terapija (IST) pokazala je kompletan odgovor kod sedam od 18 pacijenata (38,89%). Zečji antitimocitni globulin i eltrombopag nisu pokazali uspjeha kod liječenja AA. Niže doze IST-a primjenjivane od 2012. godine dovele su do većeg broja potpunih remisija u odnosu na prethodno davane više doze (44,44% naspram 33,33%).
Dobar odgovor na kortikosteroide imalo je šest od ukupno sedam bolesnika s Diamond-Blackfan anemijom (85,71%), a jedna pacijentica s rijetkom mutacijom podvrgnuta je transplantaciji koštane srži.
Dva su pacijenta s Fanconi anemijom imala tipične znakove bolesti, pacijent sa Shwachman-Diamond sindromom uz karakterističnu kliničku sliku nije imao značajno povišene vrijednosti enzima gušterače, dok je kod pacijenta s Dyskeratosis congenita postojala atipična klinička slika povezana sa specifičnom mutacijom.

Abstract (english)

Bone marrow failure (BMF) is a rare but life-threatening disorder characterized by hypocellular bone marrow, (pan)cytopenia in peripheral blood, and the absence of infiltrative disease of the bone marrow. It occurs as a result of acquired or inherited diseases. Acquired aplastic anemia (AA) is the primary cause of BMF in children and adults while inherited BMF syndromes (IBMF syndromes) are less common, but with a higher incidence in children than in adults. Early and accurate diagnosis of the disease is very important due to the specific treatment, monitoring and genetic counseling of patients and their families.
This retrospective study presented the characteristics of patients and their clinical picture in the initial presentation of AA and IBMF syndromes, as well as patient survival depending on the therapy used and complications associated with the therapy. The study group consisted of 24 patients with aplastic anemia and 14 patients with IBMF syndrome.
Out of a total of 24 patients with AA, 19 survived (79.17%). Primary bone marrow transplantation was successful in four out of five patients (80%). Primary immunosuppressive therapy (IST) showed a complete response in seven out of 18 patients (38.89%). Rabbit antithymocyte globulin and eltrombopag have not shown success in the treatment of AA. Lower doses of IST (administered since 2012) have led to a higher number of complete remissions compared to previously given higher doses (44.44% vs. 33.33%).
Six out of a total of seven patients with Diamond-Blackfan anemia (85.71%) had a good response to corticosteroids, and one patient with a rare mutation underwent bone marrow transplantation.
Two patients with Fanconi anemia had typical signs of the disease. A patient with Shwachman-Diamond syndrome had a characteristic clinical presentation without significantly elevated pancreatic enzyme levels, while a patient with Dyskeratosis congenita had an atypical clinical picture associated with a specific mutation.

• Keywords: zatajenje koštane srži; aplastična anemija; sindromi zatajenja koštane srži
• Keywords (english): bone marrow failure; aplastic anemia; IBMF syndromes
• Language: croatian
• URN:NBN: urn:nbn:hr:105:839443
• 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
• Created on: 2023-01-04 09:11:30