Primary hyperoxaluria type I: an underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children

Primary hyperoxaluria type I [PHI] is a rare metabolic disease caused by deficiency or abnormalities of the peroxisomal enzyme alanine-glyoxylate aminotransferase. In the majority of patients, the clinical expression of PHI is characterized by recurrent calcium oxalate urolithiasis, nephrocalcinosis and renal failure. Patients and Sixteen children aged 5 months to 14 years were diagnosed as PHI over a 10-year period ending in June 1997. The diagnosis was established by quantitative urinary oxalate excretion, or by a high urine oxalate/creatinine ratio on spot urines. The majority of patients had nephrolithiasis [13/16] and/or nephrocalcinosis [12/16]. Four patients already had advanced chronic renal failure at the time of diagnosis. Altogether, PHI accounted for 20% of nephrocalcinosis and 6% of end-stage renal disease. Two patients had a complete response to pyridoxine therapy, while four patients had a partial response. Eight patients underwent organ transplantation, three underwent kidney transplantation, three received combined liver/kidney transplantation for end-stage renal disease, and two received isolated preemptive liver transplantation. Combined organ transplantation provided the best long-term results

Congenital chloride diarrhea: a single center experience with ten patients

Congenital chloride diarrhea [CCD] is a rare autosomal recessive disorder characterized by life-long watery diarrhea with a high fecal chloride concentration. We report the clinical and laboratory data in 10 Saudi infants with CCD admitted to our center between January 1986 and December 1991. In addition to diarrhea, there was a history of maternal polyhydramnios, low birth weights, abdominal distention and failure to thrive. The mean serum and stool chloride concentrations were 71 and 146 mmol/L respectively. Diagnosis was frequently delayed in spite of the early symptoms and the unique association of diarrhea with hypochloremic alkalosis. Treatment with NaCl and KCI solutions in amounts titrated to correct their electrolyte depletion and metabolic alkalosis resulted in marked clinical improvement and growth catch-up. Congenital chloride diarrhea should be suspected in patients with watery stools starting in the neonatal period or early infancy. The diagnosis is confirmed by the presence of a high fecal chloride concentration and the concomitant hypochloremic alkalosis