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.

Gambaro, G., Naticchia, A., Ferraro, P. M., Spagnoletti, G., Romagnoli, J., Salerno, M. P., Citterio, F., Living Kidney Donation in a Type 1 Dent's Disease Patient from His Mother, <<KIDNEY & BLOOD PRESSURE RESEARCH>>, 2019; 44 (5): 1306-1312. [doi:10.1159/000503301] [http://hdl.handle.net/10807/147598]

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

Gambaro, Giovanni;Naticchia, Alessandro;Ferraro, Pietro Manuel;Spagnoletti, Gionata;Romagnoli, Jacopo;Citterio, Franco
2019

Abstract

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.
2019
Inglese
Gambaro, G., Naticchia, A., Ferraro, P. M., Spagnoletti, G., Romagnoli, J., Salerno, M. P., Citterio, F., Living Kidney Donation in a Type 1 Dent's Disease Patient from His Mother, <<KIDNEY & BLOOD PRESSURE RESEARCH>>, 2019; 44 (5): 1306-1312. [doi:10.1159/000503301] [http://hdl.handle.net/10807/147598]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/147598
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