Molecular Genetic Investigations in Autosomal Dominant Polycystic Kidney Disease. Gene Mutation Detection, Linkage Analysis, and Preliminary ACE Gene I/D Polymorphism Association Studies: An Update

1997 ◽  
pp. 53-57 ◽  
Author(s):  
A.E. Turco ◽  
E. Bresin ◽  
S. Rossetti ◽  
S. Englisch ◽  
P.F. Pignatti ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Linkage Analysis ◽  
Polycystic Kidney Disease ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Disease Gene ◽  
Association Studies ◽  
Molecular Genetic ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis

1993 ◽  
Vol 91 (6) ◽  
Author(s):  
Ragnhei�ur Fossdal ◽  
Magnus B��arsson ◽  
P�ll �smundsson ◽  
J�hann Ragnarsson ◽  
Dorien Peters ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Linkage Analysis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Chromosome 16P13.3 ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations

2020 ◽  
Author(s):  
Tomofumi Moriyama ◽  
Yosuke Nakayama ◽  
Mikiko Soejima ◽  
Yunosuke Yokota ◽  
Kanji Ota ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Renal Involvement ◽  
Kidney Volume ◽  
Polycystic Kidney ◽  
Annual Changes ◽  
Autosomal Dominant Polycystic Kidney ◽  
Mutation Type

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder caused by mutations in the polycystic kidney disease (PKD) gene. Although tolvaptan has benefits for renal involvement, the different effects depending on the gene mutation type are unknown. Thus, we explore the different effects of tolvaptan on the annual changes in total kidney volume (%TKV) and estimated glomerular filtration rate (eGFR) according to the gene mutation type in ADPKD patients. Methods In total, 135 ADPKD patients were screened, and 22 patients taking tolvaptan for at least a year were retrospectively studied at the Kurume University Hospital. We examined the decline in renal function and %TKV by computed tomography and analyzed the gene mutation. Patients were classified into the following four groups according to gene mutation type: PKD1-truncated, PKD1-non-truncated, PKD2, and mutation not found. Patients were treated with tolvaptan, and the effects of tolvaptan were analyzed according to the gene mutation type. Results Patients (age: 52.3 ± 11.2 years) were administered tolvaptan at a dose of 45 or 60 mg. No variation was observed in the annual changes in eGFR (%eGFR) (before: − 10.5% ± 13.9%, after: − 14.4% ± 8.1%, P = 0.139), whereas %TKV was significantly improved after the tolvaptan treatment (before: 14.9% ± 8.0%, after: − 5.4% ± 7.6%, P < 0.001). Unlike %eGFR, tolvaptan treatment significantly improved %TKV, regardless of the type of gene mutation. Conclusions A year treatment with tolvaptan significantly improved %TKV in patients with ADPKD, regardless of the gene mutation type.

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