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. 2024 Apr;29(4):201-213.
doi: 10.1111/nep.14273. Epub 2024 Jan 30.

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

Sevcan A Bakkaloğlu  1 , Bahar Büyükkaragöz  1 , Ayşe Seda Pınarbaşı  2 , Emre Leventoğlu  1 , Seha Saygılı  3 , Elif Çomak  4 , Zeynep Y Yıldırım  5 , Nurver Akıncı  6 , İsmail Dursun  7 , Aysun Karabay Bayazıt  8 , Aslı Kavaz Tufan  9 , Sema Akman  4 , Alev Yılmaz  5 , Aytül Noyan  10 , Ayşe Ağbaş  11 , Erkin Serdaroğlu  12 , Ali Delibaş  13 , Ahmet Midhat Elmacı  14 , Mehmet Taşdemir  15 , Fatih S Ezgü  16   17 , Lale Sever  3
Affiliations

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

Sevcan A Bakkaloğlu et al. Nephrology (Carlton). 2024 Apr.

Abstract

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.

Keywords: children; extra-renal manifestations; family screening; primary hyperoxaluria type 1.

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References

REFERENCES

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