Characteristics and outcome of primary hyperoxaluria type 1 patients in Jenin district, Palestine

Abstract

Background: Primary hyperoxaluria (PH) type 1 is a rare inherited metabolic disorder leading to urolithiasis, nephrocalcinosis and most often end-stage renal disease (ESRD). PH type 1 is the most common and the most severe form of primary hyperoxalurias worldwide. In the developing world, patients with PH type 1 usually have a poor prognosis and short survival time. Objectives: We aimed to document the characteristics and outcome of PH type 1 patients in Jenin district, Palestine being the type commonly seen here. Patients and Methods: 18 patients were diagnosed with primary hyperoxaluria type 1 in Jenin District (Palestine) between 2005 and 2012. A review of the patients' charts was performed and the following parameters were recorded: sex, age, age at first symptoms, age at ESRD (onset of dialysis), history of conservative treatment, history of parental consanguinity, family history of the disease, and outcome or current status. Some data were obtained directly from physicians and nurses of the kidney unit and/or from patients' families. Results: Seven patients were males and 11 were females. Mean age at diagnosis was 3.12 years while the median was 0.42 year (range: 3 months - 20 years). All the patients were from one tribe and the rate of parental consanguinity was 100%. Regarding patients' outcome, 7 children died before initiation of hemodialysis (6 of them during infancy and one at 8 years of age), 2 patients died from complications of liver or combined liver-kidney transplantation procedures, 2 patients died while on hemodialysis, 5 patients were still on conservative treatment at last follow-up, and 2 patients remained on hemodialysis. There was an important heterogeneity in symptoms, age at first symptoms, and age at ESRD. Conclusion: The high mortality rate among our patients compared to that found in the literature, may be due to the severity of the disease, shortage of some medical facilities such as absence of pediatric hemodialysis, preemptive liver or combined liver-kidney transplantation operations in Palestine.