Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene.
Gitelman syndrome
hypokalemia
kidney transplantation
the SLC12A3 gene
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
15 May 2021
15 May 2021
Historique:
pubmed:
18
12
2020
medline:
19
5
2021
entrez:
17
12
2020
Statut:
ppublish
Résumé
The eligibility for kidney donation and long-term post-donation renal prognosis of patients with Gitelman syndrome (GS) are unknown. We herein report a 44-year-old woman with GS who donated her kidney for transplant. A gene sequence analysis revealed compound heterozygous mutations of T180K and L858H in the SLC12A3 gene. Since transplantation, the renal function and serum potassium and magnesium levels of the donor and recipient have remained stable for seven years with careful monitoring and supplementation. Patients with asymptomatic GS who have no complications can be considered eligible to donate their kidney for transplant with proper monitoring after transplantation.
Identifiants
pubmed: 33328404
doi: 10.2169/internalmedicine.5977-20
pmc: PMC8188029
doi:
Substances chimiques
SLC12A3 protein, human
0
Solute Carrier Family 12, Member 3
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1567-1572Références
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