مورد إلكتروني
Nasljedne glomerulopatije dječje dobi: Hrvatsko iskustvo
| العنوان: | Nasljedne glomerulopatije dječje dobi: Hrvatsko iskustvo |
|---|---|
| عناروين إضافية: | Inherited glomerulopathies of children: a Croatian experience |
| المصدر: | Liječnički vjesnik; ISSN 0024-3477 (Print); ISSN 1849-2177 (Online); Volume 144; Issue Supp 1 |
| بيانات النشر: | Croatian medical association 2022 |
| تفاصيل مُضافة: | Šenjug, Petar Galešić Ljubanović, Danica |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Bolesti iz spektra Alportovog sindroma (AS-a) nastaju kao posljedica mutacija gena za kolagen tip IV (COL43, COL4A4 i COL4A5). Spektar bolesti obuhvaća sve od tzv. benigne obiteljske hematurije na jednom kraju do klasičnog AS-a s ranom progresijom bolesti i izvanbubrežnim manifestacijama na drugom kraju spektra. Istraživačko iskustvo naše skupine počelo je 2003. godine, kada se prof. dr. sc. Danica Galešić Ljubanović vratila s edukacije iz nefropatologije od 18 mjeseci u Denveru, SAD i otvorila nefropatološki laboratorij u KB Dubrava. Dugogodišnji rad rezultirao je projektom Hrvatske zaklade za znanost ‘’Genotip-fenotip korelacija u AS-u i nefropatiji tankih glomerularnih bazalnih membrana (TBMN)’’ provedenom u periodu od 2015. do 2019. godine kojeg je profesorica bila voditelj. Glavni cilj istraživanja bio je utvrditi prevalenciju AS-a i TBMN-a u Hrvatskoj i razjasniti AS i TBMN histološki, genetski i klinički s krajnjim ciljem stvaranja registra pacijenta s ovim bolestima. Dijagnostički proces poremećaja iz spektra AS-a je često zahtijevan. Postoji velika varijabilnost u kliničkoj prezentaciji bolesti, ali i u histološkoj slici. Najtočniji test za otkrivanje uzročnih patogenih varijanti u genima kolagena tipa IV je opsežno paralelno genetsko testiranje čitavih kodirajućih sekvenci sva tri gena COL4A5, COL4A3 i COL4A4. Biopsija bubrega je od posebne koristi ako su klinički i podaci o članovima obitelji negativni i ne postoji mogućnost genetskog testiranja. Biopsija daje uvid u stupanj oštećenja parenhima bubrega te je u nekim slučajevima neizbježna dijagnostička metoda, osobito u pacijenata s neobičnim kliničkim tijekom bolesti (npr. neočekivano povećanje proteinurije). Tanke glomerularne bazalne membrane (GBM) su morfološki entitet utvrđen mjerenjem na elektronskoj mikroskopiji (EM) te su za razumijevanje njihovog značaja neophodni klinički i genetski podaci. Alport spectrum disorders are result of mutations in the type IV collagen genes (COL43, COL4A4 and COL4A5). The spectrum of diseases includes the so-called benign familial hematuria at one end to classic Alport syndrome (AS) with early progression and extrarenal manifestations at the other end of the spectrum. The research experience of our group started in 2003 when professor Danica Galešić Ljubanović returned to Zagreb after 18 months education in renal pathology (Denver, USA) and started a renal pathology laboratory at Dubrava University Hospital. This long-term work resulted in a project of the Croatian Science Foundation “Genotypephenotype correlations in Alport’s syndrome and thin glomerular basement membrane nephropathy” conducted in the period from 2015 to 2019 under the leadership of professor Galešić Ljubanović. The main goal of the study was to determine the prevalence of AS and thin glomerular basement membrane nephropathy (TBMN) in Croatia and to clarify AS and TBMN histologically, genetically and clinically with the ultimate goal of creating a registry of patients with AS and TBMN. The diagnostic process of AS spectrum disorders is often challenging. There is great variability in the clinical presentation of the disease, but also in the histological findings. The most accurate test for detecting causative pathogenic variants in type IV collagen genes is extensive parallel genetic testing of the entire coding sequences of all three COL4A5, COL4A3, and COL4A4 genes. A kidney biopsy is especially helpful if there are negative clinical and pedigree data and there is no possibility of genetic testing. The biopsy provides insight into the degree of kidney parenchymal injury and is in some cases an unavoidable diagnostic method, especially in patients with type IV collagen mutations with an unusual clinical course of the disease (such as an unexpected increase in proteinuria). Thin glomerular basement membranes are a morphological entity determined by measure |
| مصطلحات الفهرس: | HEREDITARNI NEFRITIS; BENIGNA OBITELJSKA HEMATURIJA; KOLAGEN TIP IV; GENSKO TESTIRANJE, NEPHRITIS, HEREDITARY; HEMATURIA, BENIGN FAMILIAL; COLLAGEN TYPE IV; GENETIC TESTING, text, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion |
| URL: | info:eu-repo/semantics/altIdentifier/doi/10.26800/LV-144-supl1-36 |
| 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 English Croatian |
| أرقام أخرى: | HRCAK oai:hrcak.srce.hr:275965 1337589134 |
| المصدر المساهم: | HRCAK PORTAL ZNANSTVENIH CASOPISA REPUB From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1337589134 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |