Primary hyperoxaluria type 1: strategy for organ transplantation.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 , the most common form of primary hyperoxaluria , is an autosomal recessive disorder caused by a deficiency of the liver -specific enzyme alanine :glyoxylate aminotransferase . This results in increased synthesis and subsequent urinary excretion of the metabolic end-product oxalate and the deposition of insoluble calcium oxalate in the kidney and urinary tract . As glomerular filtration rate decreases due to progressive renal involvement , oxalate accumulates and results in systemic oxalosis .Diagnosis is still often delayed . It is mainly established on the basis of clinical and sonographic findings , urinary oxalate ± glycolate assessment , and DNA analysis .Following specific conservative measures , the ultimate management is based on organ transplantation . Correction of the enzyme defect by liver transplantation should be planned before systemic oxalosis develops to optimize outcomes and may be either simultaneous (immunological benefit ) or sequential (biochemical benefit ) liver -kidney transplantation depending on disease staging , facilities , and access to deceased or living donors . Allograft and patient survival currently approaches that of transplant patients with kidney transplantation alone and with other diseases requiring combined liver -kidney transplantation . In addition , this strategy has also provided significant improvement in both quality of life and statural growth .