Living Kidney Donation in a Type 1 Dent’s Disease Patient from His Mother

INTRODUCTION: Dent's disease is a rare X-linked recessive disorder that manifests in childhood or early adulthood and can lead to end-stage renal disease (ESRD). It occurs in males, who are hemizygous. In patients who develop ESRD, a deceased donor kidney transplant cures the disease. Females are obligate carriers of the mutated gene, and some show a mild Dent's disease phenotype. There may be reason for concern when considering a female obligate carrier (i.e., the mother) for kidney donation because of the risk of kidney function deterioration. CASE PRESENTATION: We describe the first successful kidney transplantation involving a patient with type 1 Dent's disease and ESRD given a kidney by an obligate carrier of the gene mutation, his mother. CONCLUSIONS: After careful assessment of the female obligate carriers, intrafamilial kidney donation in Dent's disease type 1 is feasible. No deteriorating renal function in the donor was observed.