Late diagnosis of primary hyperoxaluria type III

Bilateral nephrocalcinosis in primary hyperoxaluria type 1

A 31-year-old male presented with recurrent renal stones from the age of 12 years and renal failure secondary to nephrolithiasis on hemodialysis for the past 6 years. He had been born of a consanguineous union and one out of his five siblings also had a history of renal failure secondary to nephrolithiasis. He had moderate anemia. Abdominal X-ray showed bilateral nephrocalcinosis with multiple ...

Primary Hyperoxaluria

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III

During the last years, the group of patients with the typical clinical signs of primary hyperoxaluria (PH), but negative diagnostic results for the two types of PH known up till then has grown increasingly larger [1, 2]. It was, however, always obvious that the dramatic clinical course of most of these patients with unclassified hyperoxaluria, e.g. recurrent calcium-oxalate (CaOx) kidney stones...

Primary hyperoxaluria

Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2?

et al. Effect of histological damage on long-term kidney transplant outcome. Group. Three-year efficacy and safety results from a study of everolimus versus mycophenolate mofetil in de novo renal transplant patients. Sirolimus-based therapy following early cyclosporine withdrawal provides significantly improved renal histology and function at 3 years. A meta-analysis of immunosuppression withdr...