Iskustva s galaktozemijom u Hrvatskoj

التفاصيل البيبلوغرافية
العنوان:	Iskustva s galaktozemijom u Hrvatskoj
عناروين إضافية:	Experiences with galactosemia in Croatia
المصدر:	Liječnički vjesnik; ISSN 0024-3477 (Print); ISSN 1849-2177 (Online); Volume 145; Issue 1-2
بيانات النشر:	Croatian medical association 2023
تفاصيل مُضافة:	Šmaguc, Ana Ramadža, Danijela Petković Sarnavka, Vladimir Krželj, Vjekoslav Lozić, Bernarda Pušeljić, Silvija Rahelić, Valentina Mesarić, Nikola Grubić, Marina Bogdanić, Ana Uroić, Anita Špehar Žigman, Tamara Grizelj, Ruža Vuković, Jurica Mardešić, Duško Szatmari, Ildiko Rivera, Isabel Fumić, Ksenija Barić, Ivo
نوع الوثيقة:	Electronic Resource
مستخلص:	SAŽETAK 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. SUMMARY 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.
مصطلحات الفهرس:	Deskriptori 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, 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, text, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion
URL:	https://hrcak.srce.hr/294579 https://hrcak.srce.hr/file/433204 info:eu-repo/semantics/altIdentifier/doi/10.26800/LV-145-1-2-1
الإتاحة:	Open access content. Open access content info:eu-repo/semantics/openAccess The Medical Journal is an open access journal. The content of the magazine is available in its entirety free of charge. The contents of the Medical Journal may be reproduced with the quotation "taken from the Medical Journal". Users may not use the materials for commercial purposes, may not modify, redesign or rework the material.
ملاحظة:	application/pdf Croatian
أرقام أخرى:	HRCAK oai:hrcak.srce.hr:294579 1379352799
المصدر المساهم:	HRCAK PORTAL ZNANSTVENIH CASOPISA REPUB From OAIster®, provided by the OCLC Cooperative.
رقم الأكسشن:	edsoai.on1379352799
قاعدة البيانات:	OAIster

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