[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE]

Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine: glyoxylate aminotransferase, AGT.To conduct clinical and genetic characterization of Druze and Muslim Arab patients with PH1 in Northern Israel.In the last 20 years, 36 children and families were diagnosed and treated in the Nephrology-Genetic Clinic at the Galilee Medical Center. Clinical evaluation for nephrocalcinosis with/without renal stones, elevated excretion of oxalate and glycolate in urine, and genetic workup were performed. Treatment included hemodialysis, and/or peritoneal dialysis. Some patients were directed to preemptive liver transplantation or to combined liver and kidney transplantation. Genetic counseling and prenatal diagnosis were conducted.Thirty-six patients, from newborns to adults in their 20's, were diagnosed with PH1. They represent 38.8% of patients in the pediatric-dialysis unit. The genetic variant in the AGXT gene causing their disease was identified. Nine prenatal diagnoses were performed, and a genetic screening program was implemented in four Druze villages in the Galilee and Golan Heights.PH1 is a prevalent disease among Druze and Muslim Arabs in northern Israel. Genetic diagnosis is the gold standard and enables early diagnosis and treatment. Genotype-phenotype correlations are complex. Population screening programs provide an important tool for prevention.The "genetic islands" of PH1 in northern Israel require a community-based medical approach for the prevention of the disease and the treatment of presymptomatic patients for better prognosis.