Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study

Basit Öğe Kaydı
dc.authoridAğbaş, Ayşe/0000-0002-3658-8622
dc.authoridSaygili, Seha Kamil/0000-0002-2424-6959
dc.authoridTaşdemir, Mehmet/0000-0002-5579-6339
dc.authorid, emre/0000-0002-0504-7911
dc.authoridBAKKALOGLU EZGU, SEVCAN AZIME/0000-0001-6530-9672
dc.authorwosidAğbaş, Ayşe/AAH-3650-2019
dc.authorwosidSaygili, Seha Kamil/GLU-6742-2022
dc.authorwosidDursun, Ismail/AAW-7097-2020
dc.authorwosidTaşdemir, Mehmet/V-7413-2017
dc.contributor.authorBakkaloglu, Sevcan A.
dc.contributor.authorBuyukkaragoz, Bahar
dc.contributor.authorPinarbasi, Ayse Seda
dc.contributor.authorLeventoglu, Emre
dc.contributor.authorSaygili, Seha
dc.contributor.authorComak, Elif
dc.contributor.authorYildirim, Zeynep Y.
dc.date.accessioned2024-05-19T14:40:02Z
dc.date.available2024-05-19T14:40:02Z
dc.date.issued2024
dc.departmentİstinye Üniversitesien_US
dc.description.abstractBackgroundPrimary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey.MethodsThis is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood-onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3).ResultsForty-eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality.ConclusionPH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality. imageConclusionPH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality. image PH1 is not an isolated kidney disease but a systemic disease that can affect almost all systems. The fact that kidney damage develops earlier and is the leading problem compared with other manifestations should not cause the extrarenal manifestations of PH1 to be ignored. imageen_US
dc.identifier.doi10.1111/nep.14273
dc.identifier.endpage213en_US
dc.identifier.issn1320-5358
dc.identifier.issn1440-1797
dc.identifier.issue4en_US
dc.identifier.pmid38290500en_US
dc.identifier.scopus2-s2.0-85183867847en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage201en_US
dc.identifier.urihttps://doi.org10.1111/nep.14273
dc.identifier.urihttps://hdl.handle.net/20.500.12713/4894
dc.identifier.volume29en_US
dc.identifier.wosWOS:001152318000001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofNephrologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240519_kaen_US
dc.subjectChildrenen_US
dc.subjectExtra-Renal Manifestationsen_US
dc.subjectFamily Screeningen_US
dc.subjectPrimary Hyperoxaluria Type 1en_US
dc.titleComprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide studyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu