Izvorni znanstveni članak
https://doi.org/10.26800/LV-144-supl1-36
Inherited glomerulopathies of children: a Croatian experience
Petar Šenjug
; Odjel za nefropatologiju i elektronsku mikroskopiju, Klinički zavod za patologiju i citologiju, Klinička bolnica Dubrava, Zagreb, Hrvatska
Danica Galešić Ljubanović
; Zavod za patologiju, Medicinski fakultet Sveučilišta u Zagrebu, Zagreb, Hrvatska
Sažetak
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 measurement on electron microscopy, and clinical and genetic data are necessary to understand their significance.
Ključne riječi
NEPHRITIS, HEREDITARY; HEMATURIA, BENIGN FAMILIAL; COLLAGEN TYPE IV; GENETIC TESTING
Hrčak ID:
275965
URI
Datum izdavanja:
24.4.2022.
Posjeta: 844 *