Teenager and Stranger in an Adult “World”

Abstract

The primary hyperoxaluria type 1 is caused by mutations in the gene coding for the enzyme L-alanine-glyoxylate amino transferase (AGT), which is expressed in the/by liver. Transmission is autosomal: recessive parents are healthy, unknowing carriers of the mutation (especially if there are no affected relations), while each child has a 25% chance of developing the disease. There is also a second type of disease (primary hyperoxaluria type 2), caused by the deficiency of another enzyme, the D-glycerate dehydrogenase, and a third type (hyperoxaluria type 3), identified most recently and caused by the defect in the gene DHDPSL. On the basis of clinical observation and family history, the diagnosis of primary hyperoxaluria can be made through laboratory analysis (measurement of calcium oxalate in urine and blood) and genetic analysis, searching mutations in the gene involved. This article is a case study which involved the nursing staff for a change of approach and caring for a teenager in a world of adults.