Title (croatian) Iskustva s galaktozemijom u Hrvatskoj Title (croatian) Experiences with galactosemia in Croatia Author Ana Šmaguc Author Danijela Petković Ramadža Author Vladimir Sarnavka Author Vjekoslav Krželj Author Bernarda Lozić Author Silvija Pušeljić Author Valentina Rahelić Author Nikola Mesarić Author Marina Grubić Author Ana Bogdanić Author Anita Špehar Uroić Author Tamara Žigman Author Ruža Grizelj Author Jurica Vuković Author Duško Mardešić Author Ildiko Szatmari Author Isabel Rivera Author Ksenija Fumić Author Ivo Barić Author's institution University of Zagreb Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract (croatian) Cilj našeg rada bio je opis osobitosti bolesnika s klasičnom galaktozemijom iz Hrvatske uz prikaz bolesnika s manjkom galaktokinaze i bolesnika koji je dvostruki heterozigot za mutacije gena galaktoza-1-fosfat- -uridiltransferaze (GALT) i galaktoza-4’-epimeraze (GALE). Istraživanje je obuhvatilo 24 bolesnika s dijagnozom klasične galaktozemije postavljenom u razdoblju od 1977. do 2020. godine. Dijagnoza je postavljana na temelju kliničke slike, koncentracije galaktoze u krvi i urinu, a potvrđivana mjerenjem aktivnost galaktoza-1-fosfat-uridil-transferaze i/ili analizom gena GALT. Simptome u novorođenačkom razdoblju razvilo je 87% bolesnika, a jedan bolesnik je umro. Medijan dobi pri pojavi prvih simptoma bio je četiri dana, a pri početku dijete jedanaest i pol dana. Barem jednu dugoročnu komplikaciju razvilo je 78,3% bolesnika. Među njima su bili poremećaji psihomotoričkog razvoja (68,2%), ponašanja (31,8%) i govora (55,6%), smanjene intelektualne sposobnosti (46,2%), druge neurološke komplikacije (40,9%), katarakta (18,2%) i smanjena mineralna gustoća kostiju (27,8%). Zatajenje jajnika razvilo je 66,7% bolesnica starijih od 10 godina. Uspoređujući bolesnike iz iste obitelji, iako je početak liječenja u drugorođenih bio raniji, čini se da dugoročne komplikacije nisu bile povezane s redoslijedom rođenja. Ova studija pokazuje da većina bolesnika s klasičnom galaktozemijom razvije simptome u novorođenačkom razdoblju i, unatoč strogom pridržavanju dijete, dugoročne komplikacije. Mnogi su još nepoznati čimbenici koji utječu na patogenezu i klinički tijek bolesti, zbog čega su potrebna daljnja istraživanja klasične galaktozemije.
Abstract (croatian) The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1-phosphate uridyl transferase (GALT), and galactose-4’-epimerase (GALE) genes. The study included 24 patients who were diagnosed with classic galactosemia from 1977 to 2020. Diagnosis was based on clinical presentation and galactose concentrations in blood and urine, and confirmed by measuring galactose-1-phosphate-uridyl-transferase activity and/or GALT gene analysis. Acute manifestations of the disease developed in 87% of patients in the newborn period, and one patient died. The median age at the onset of first symptoms was four days and for onset of therapy 11.5 days. At least one long-term complication occured in 78.3% of patients, including developmental disorders (68.2%), behavioral disorders (31.8%), speech disorders (55.6%), impaired intellectual abilities (46.2%), other neurological complications (40.9%), cataract (18.2%), and decreased bone mineral density (27.8%). Ovarian insufficiency occured in 66.7% of female patients older than 10 years. When comparing siblings, although a galactose-free diet was started earlier in the second-born children with classical galactosemia, the incidence of long-term outcomes did not appear to be related to birth order. In conclusion, this study shows that the vast majority of patients develop symptoms in the neonatal period, as well as long-term complications, despite strict adherence to a galactose-free diet. Many factors that affect the pathogenesis and clinical course of the disease are still unknown, which is why further research into classical galactosemia is needed.
Keywords (english)
GALACTOSEMIAS – complications, diagnosis, genetics
GALACTOSE – blood
UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE – deficiency, genetics
UDP GLUCOSE 4-EPIMERASE – deficiency, genetics
GALACTOKINASE – deficiency, genetics
MUTATION
PHENOTYPE
NEONATAL SCREENING
CROATIA
Keywords (croatian)
GALAKTOZEMIJA – dijagnoza, genetika, komplikacije
GALAKTOZA – u krvi
GALAKTOZA-1-FOSFAT URIDIL TRANSFERAZA – genetika, nedostatak
URIDIN DIFOSFAT GALAKTOZA 4-EPIMERAZA – genetika, nedostatak
GALAKTOKINAZA – genetika, nedostatak
MUTACIJA
FENOTIP
NOVOROĐENAČKI PROBIR
HRVATSKA
Language croatian Language croatian Publication type Scientific paper - Original scientific paper Publication status Published Peer review Peer review Publication version Published version Journal title Liječnički vjesnik Numbering vol. 145, no. 1-2, pp. 1-11 p-ISSN 0024-3477 e-ISSN 1849-2177 DOI https://doi.org/10.26800/LV-145-1-2-1 URN:NBN urn:nbn:hr:105:679277 Publication 2023 Document URL https://hrcak.srce.hr/294579 Type of resource Text Access conditions Open access Terms of use Created on 2023-07-21 08:00:49
