TY - JOUR
T1 - Living Kidney Donation in a Type 1 Dent's Disease Patient from His Mother
AU - Gambaro, Giovanni
AU - Naticchia, Alessandro
AU - Ferraro, Pietro Manuel
AU - Spagnoletti, Gionata
AU - Romagnoli, Jacopo
AU - Salerno, Maria Paola
AU - Citterio, Franco
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - Dent's disease
KW - Kidney transplantation
KW - Living donation
KW - Obligate carrier
KW - Dent's disease
KW - Kidney transplantation
KW - Living donation
KW - Obligate carrier
UR - http://hdl.handle.net/10807/147598
UR - http://www.karger.com/journals/kbr/kbr_jh.htm
U2 - 10.1159/000503301
DO - 10.1159/000503301
M3 - Article
SN - 1420-4096
VL - 44
SP - 1306
EP - 1312
JO - KIDNEY & BLOOD PRESSURE RESEARCH
JF - KIDNEY & BLOOD PRESSURE RESEARCH
ER -