Abstract |
Nephronophthisis (NPHP) is an autosomal recessive disease manifesting as tubulointerstitial nephritis uniformly progressing to ESRD in approximately 5-10% patients in childhood. Living donor transplantation is the most beneficial mean of renal replacement therapy compared to other methods. However, living kidney donation is contraindicated in potential donor with diseases of autosomal dominant mode of inheritance potentially leading to kidney failure in future. On the other hand, autosomal recessive genetic kidney diseases, such as NPHP, are not usually contraindication to living kidney donation. Herein, we are reporting related living kidney transplantation with a family history of NPHP form 46-year-old mother (heterozygote) to 17-year-old daughter with (autosomal recessive homozygote) with focus on donor follow-up after nephrectomy.
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Authors | Matej Vnučák, Karol Graňák, Petra Skálová, Ľudovít Laca, Marián Mokáň, Ivana Dedinská |
Journal | Nephron
(Nephron)
Vol. 144
Issue 11
Pg. 583-588
( 2020)
ISSN: 2235-3186 [Electronic] Switzerland |
PMID | 32906116
(Publication Type: Case Reports)
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Copyright | © 2020 S. Karger AG, Basel. |
Topics |
- Adolescent
- Female
- Heterozygote
- Humans
- Kidney Diseases, Cystic
(congenital, surgery)
- Kidney Transplantation
- Living Donors
- Middle Aged
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