Pregled bibliografske jedinice broj: 1257153
Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population // Bosnian journal of basic medical sciences, 23 (2022), 1; 89-100 doi:10.17305/bjbms.2022.7567 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 1257153 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population
Autori
Horaček, Matija ; Nikuševa Martić, Tamara ; Šenjug, Petar ; Šenjug Perica, Marija ; Oroz, Maja ; Kuzmac, Sania ; Klarić, Dragan ; Glavina Durdov, Merica ; Saraga, Marijan ; Milošević, Danko ; Batinić, Danica ; Ćorić, Marijana ; Paić, Frane ; Galešić Ljubanović, Danica
Izvornik
Bosnian journal of basic medical sciences (1512-8601) 23
(2022), 1;
89-100
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
alport syndrome (AS) ; thin basement membrane nephropathy (TBMN) ; proteinuria ; collagen type IV ; α3 chain ofcollagen IV ; COL4A3c.2881+1G>A variant ; targeted next-generation sequencing (NGS)
Sažetak
Alport syndrome (AS) and thin basement membrane nephropathy(TBMN) are part of the spectrum of kidney disorders caused bypathogenic variants inα3, α4, orα5 chains of the collagen type IV, the major structural component of the glomerular basementmembrane (GBM). Using targeted next- generation sequencing(NGS), 34 AS/TBMN patients (58.8% male) from 12 unrelated familieswere found positive for heterozygous c.2881+1G>A variant of theCOL4A3gene, which is considered disease- causing. All patients werefrom the continental or island part of Croatia. Clinical, laboratory, and histopathological data collected from the medical records wereanalyzed and compared to understand the clinical course and prognosis of the affected patients. At the time of biopsy or firstclinicalevaluation, the mean age was 31 years (median: 35 years ; range: 1–72 years). Hematuria was present in 33 patients (97.1%) and 19(55.9%) patients had proteinuria. There were 6 (17.6%) patients with hearing loss, 4 (11.8%) with ocular lesions, and 11 (32.4%) withhypertension. Twenty- three (67.6%) patients had proteinuria at follow- up, and five (14.7%) patients with the median age of 48 years(range: 27–55) progressed to kidney failure, started dialysis, or underwent kidney transplantation. Of the 13 patients who underwentkidney biopsy, 4 (30.8%) developed focal segmental glomerulosclerosis (FSGS), and 8 (66.7%) showed lamellation of the GBM, including all patients with FSGS. It is essential to conduct a detailed analysis of each collagen type IV genetic variant to optimize theprognosis and therapeutic approach for the affected patients
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb,
Klinička bolnica "Sveti Duh",
KBC Split,
Klinička bolnica "Dubrava",
Klinički bolnički centar Zagreb,
Medicinski fakultet, Split,
Dječja bolnica Srebrnjak,
Opća bolnica Zadar
Profili:
Danko Milošević
(autor)
Maja Oroz
(autor)
Petar Šenjug
(autor)
Danica Galešić Ljubanović
(autor)
Frane Paić
(autor)
Marijana Ćorić
(autor)
Danica Batinić
(autor)
Matija Horaček
(autor)
Merica Glavina Durdov
(autor)
Marijan Saraga
(autor)
Tamara Nikuševa Martić
(autor)
Sania Kuzmac
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE