Abstract

Background: Primary hyperoxalurias (PH) are a group of rare autosomal recessive metabolic disorders characterized by increased renal excretion of oxalate leading to nephrocalcinosis, chronic renal failure and later systemic oxalosis and multi-organ failure.
Methods: We conducted a retrospective review of all patients treated at the only pediatric nephrology center in Kuwait over 9 years. Patient’s demographic and laboratory data and the disease outcome were reviewed.
Results: A total of 10 patients were included. Nine of them had PH type 1. Male:Female ratio was 2:1. Median age at diagnosis was 2 months. Patients below the age’s of 1 and 5 years of age at diagnosis constituted 66% and 77% respectively. Positive family history of PH was reported in 66%. First degree consanguinity was reported in 77% of families of affected patients and 44% of them had an affected sibling with PH1. Symptoms included: renal stones in 30%, urinary tract infections in 22.5% and gross hematuria in 11%. All patients had medullary nephrocalcinosis. Chronic kidney disease (CKD) was reported in 77% of patients at diagnosis, 5 of them were infants. End-stage renal disease (ESRD) was reported in 77%, all were started on hemodialysis. Two patients had combined liver-kidney transplantation. Mortality rate was 44%.
Conclusion: PH1 in Kuwaiti children has a severe form of the disease with an early onset and rapid progression to ESRD during infancy.