Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene

被引:2
作者
Kamejima, Sahoko [1 ]
Yamamoto, Izumi [1 ]
Tajiri, Akiko [1 ]
Tanno, Yudo [1 ]
Ohkido, Ichiro [1 ]
Yokoo, Takashi [1 ]
机构
[1] Jikei Univ, Div Nephrol & Hypertens, Sch Med, Dept Internal Med, Minato, Tokyo, Japan
关键词
Gitelman syndrome; kidney transplantation; hypokalemia; the SLC12A3 gene; HYPOKALEMIC ALKALOSIS; FOLLOW-UP; COTRANSPORTER; PROGRESSION; PHENOTYPE; BARTTERS; GENOTYPE; DISEASE;
D O I
10.2169/internalmedicine.5977-20
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:1567 / 1572
页数:6
相关论文
共 31 条
[1]   Chronic renal failure in kidney transplant recipients. Do they receive optimum care?: Data from the UK renal registry [J].
Ansell, D. ;
Udayaraj, U. P. ;
Steenkamp, R. ;
Dudley, C. R. K. .
AMERICAN JOURNAL OF TRANSPLANTATION, 2007, 7 (05) :1167-1176
[2]   Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome [J].
Balavoine, A. S. ;
Bataille, P. ;
Vanhille, P. ;
Azar, R. ;
Noel, C. ;
Asseman, P. ;
Soudan, B. ;
Wemeau, J. L. ;
Vantyghem, M. C. .
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2011, 165 (04) :665-673
[3]   Acquired Gitelman's syndrome: an oxymoron? [J].
Bansal, Renu ;
Ranga, Vinay K. .
INTERNATIONAL UROLOGY AND NEPHROLOGY, 2011, 43 (01) :233-236
[4]   Electrocardiogram with prolonged QT interval in Gitelman disease [J].
Bettinelli, A ;
Tosetto, C ;
Colussi, G ;
Tommasini, G ;
Edefonti, A ;
Bianchetti, MG .
KIDNEY INTERNATIONAL, 2002, 62 (02) :580-584
[5]   USE OF CALCIUM EXCRETION VALUES TO DISTINGUISH 2 FORMS OF PRIMARY RENAL TUBULAR HYPOKALEMIC ALKALOSIS - BARTTER AND GITELMAN SYNDROMES [J].
BETTINELLI, A ;
BIANCHETTI, MG ;
GIRARDIN, E ;
CARINGELLA, A ;
CECCONI, M ;
APPIANI, AC ;
PAVANELLO, L ;
GASTALDI, R ;
ISIMBALDI, C ;
LAMA, G ;
MARCHESONI, C ;
MATTEUCCI, C ;
PATRIARCA, P ;
DINATALE, B ;
SETZU, C ;
VITUCCI, P .
JOURNAL OF PEDIATRICS, 1992, 120 (01) :38-43
[6]   The molecular basis of hypokalaemic alkalosis: Bartter's and Gitelman's syndromes [J].
Bhandari, S ;
Turney, JH .
NEPHRON, 1998, 80 (04) :373-379
[7]   Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life [J].
Cruz, DN ;
Shaer, AJ ;
Bia, MJ ;
Lifton, RP ;
Simon, DB .
KIDNEY INTERNATIONAL, 2001, 59 (02) :710-717
[8]  
Dimitrijevic Z, 2015, CLIN TER, V166, pE173, DOI [10.7417/CT.2015.1850, 10.7417/T.2015.1850]
[9]   Disease progression and outcomes in chronic kidney disease and renal transplantation [J].
Djamali, A ;
Kendziorski, C ;
Brazy, PC ;
Becker, BN .
KIDNEY INTERNATIONAL, 2003, 64 (05) :1800-1807
[10]   Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities [J].
Filippatos, T. D. ;
Rizos, C. V. ;
Tzavella, E. ;
Elisaf, M. S. .
INTERNATIONAL UROLOGY AND NEPHROLOGY, 2018, 50 (01) :91-96