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

Autor: Bakkaloğlu SA; Department of Pediatric Nephrology, Gazi University, Ankara, Turkey., Büyükkaragöz B; Department of Pediatric Nephrology, Gazi University, Ankara, Turkey., Pınarbaşı AS; Diyarbakır Children's Hospital, Pediatric Nephrology Unit, Diyarbakır, Turkey., Leventoğlu E; Department of Pediatric Nephrology, Gazi University, Ankara, Turkey., Saygılı S; Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul University, İstanbul, Turkey., Çomak E; Department of Pediatric Nephrology, Akdeniz University, Antalya, Turkey., Yıldırım ZY; İstanbul Faculty of Medicine, Department of Pediatric Nephrology, Istanbul University, İstanbul, Turkey., Akıncı N; Department of Pediatric Nephrology, Şişli Etfal Research and Training Hospital, İstanbul, Turkey., Dursun İ; Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey., Karabay Bayazıt A; Department of Pediatric Nephrology, Çukurova University, Adana, Turkey., Kavaz Tufan A; Department of Pediatric Nephrology, Osmangazi University, Eskişehir, Turkey., Akman S; Department of Pediatric Nephrology, Akdeniz University, Antalya, Turkey., Yılmaz A; İstanbul Faculty of Medicine, Department of Pediatric Nephrology, Istanbul University, İstanbul, Turkey., Noyan A; Adana Hospital, Department of Pediatric Nephrology, Başkent University, Adana, Turkey., Ağbaş A; Department of Pediatric Nephrology, Haseki Research and Training Hospital, İstanbul, Turkey., Serdaroğlu E; Department of Pediatric Nephrology, Dr. Behçet Uz Children Hospital, İzmir, Turkey., Delibaş A; Department of Pediatric Nephrology, Mersin University, Mersin, Turkey., Elmacı AM; Pediatric Nephrology Unit, Konya Maternal and Children Hospital, Konya, Turkey., Taşdemir M; Department of Pediatric Nephrology, İstinye University, İstanbul, Turkey., Ezgü FS; Department of Pediatric Inborn Metabolic Disorders, Gazi University, Ankara, Turkey.; Department of Pediatric Genetic Disorders, Gazi University, Ankara, Turkey., Sever L; Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology, İstanbul University, İstanbul, Turkey.
Jazyk: angličtina
Zdroj: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2024 Apr; Vol. 29 (4), pp. 201-213. Date of Electronic Publication: 2024 Jan 30.
DOI: 10.1111/nep.14273
Abstrakt: Background: Primary 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.
Methods: This 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).
Results: Forty-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.
Conclusion: PH1 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.
(© 2024 Asian Pacific Society of Nephrology.)
Databáze: MEDLINE
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