Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to diff
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ORIGINAL ARTICLE
Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations Tomofumi Moriyama1 · Yosuke Nakayama1 · Mikiko Soejima2 · Yunosuke Yokota1 · Kanji Ota1 · Sakuya Ito1 · Goh Kodama1 · Nao Nakamura1 · Yuka Kurokawa1 · Junko Yano1 · Utako Ueda1 · Yoshimi Takamiya1 · Yusuke Kaida1 · Takuma Hazama1 · Ryo Shibata1 · Yoshiro Koda2 · Kei Fukami1 Received: 24 July 2020 / Accepted: 15 October 2020 © The Author(s) 2020
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 A 4550A > C* 6397_6399delTTC 11340_11345delTTACGA 316delG fs-* 1525_1529del5 ins15-fs-* 1081C > T 958C > T 1081C > T
DNA change
A4002fs T1543fs V1794fs N4229fs L161fs122X E4149fs Q1483X Y3781X S2127fs Y1517X Y1517S F2133del Y3781_D3782del2 E106fs10X C509fs20X R361X R320X R361X
Protein change
52.2 71 46.1 39.2 38.8 25 80.4 46 20.5 34.4 33.2 31.5 82 55.7 87.3 49.6 76.8 45.5 40.9 55.8 110 58.1
eGFR (mL/ min/1.73 m2) 2045 916 2403 1431 844 2385 1256 2628 4064 3767 1296 3000 1400 1754 1026 1510 1084 5130 901 1126 1565 1931
TKV (mL) + + + − − + − + − − + + + + + + − + − + − −
ADPKD family history + + + + + + − + + + + + + + + + + + − + + +
Liver cyst
− + − + + + + + + − − − − − − − − − − − − −
UCA or SAH
*Novel gene mutation
No. number, eGFR estimated glomerular filtration rate, TKV total kidney volume, ADPKD autosomal dominant polycystic kidney disease, UCA unruptured cerebral aneurysm, SAH subarachnoid hemorrhage, PKD1-T polycystic kidney disease1 truncating mutation, PKD1-NT polycystic kidney disease1 non-truncating mutation, PKD2 polycystic kidney disease2
Age
Case
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