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

Author:

Bakkaloğlu Sevcan A.1ORCID,Büyükkaragöz Bahar1,Pınarbaşı Ayşe Seda2,Leventoğlu Emre1ORCID,Saygılı Seha3,Çomak Elif4,Yıldırım Zeynep Y.5,Akıncı Nurver6,Dursun İsmail7,Karabay Bayazıt Aysun8,Kavaz Tufan Aslı9,Akman Sema4,Yılmaz Alev5,Noyan Aytül10,Ağbaş Ayşe11,Serdaroğlu Erkin12,Delibaş Ali13,Elmacı Ahmet Midhat14,Taşdemir Mehmet15,Ezgü Fatih S.1617,Sever Lale3

Affiliation:

1. Department of Pediatric Nephrology Gazi University Ankara Turkey

2. Diyarbakır Children's Hospital Pediatric Nephrology Unit Diyarbakır Turkey

3. Cerrahpaşa Faculty of Medicine, Department of Pediatric Nephrology İstanbul University İstanbul Turkey

4. Department of Pediatric Nephrology Akdeniz University Antalya Turkey

5. İstanbul Faculty of Medicine, Department of Pediatric Nephrology Istanbul University İstanbul Turkey

6. Department of Pediatric Nephrology Şişli Etfal Research and Training Hospital İstanbul Turkey

7. Department of Pediatric Nephrology Erciyes University Kayseri Turkey

8. Department of Pediatric Nephrology Çukurova University Adana Turkey

9. Department of Pediatric Nephrology Osmangazi University Eskişehir Turkey

10. Adana Hospital, Department of Pediatric Nephrology Başkent University Adana Turkey

11. Department of Pediatric Nephrology Haseki Research and Training Hospital İstanbul Turkey

12. Department of Pediatric Nephrology Dr. Behçet Uz Children Hospital İzmir Turkey

13. Department of Pediatric Nephrology Mersin University Mersin Turkey

14. Pediatric Nephrology Unit Konya Maternal and Children Hospital Konya Turkey

15. Department of Pediatric Nephrology İstinye University İstanbul Turkey

16. Department of Pediatric Inborn Metabolic Disorders Gazi University Ankara Turkey

17. Department of Pediatric Genetic Disorders Gazi University Ankara Turkey

Abstract

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.image

Publisher

Wiley

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