Abstract:
BACKGROUND:Autosomal dominant polycystic kidney disease (ADPKD), one of the most common hereditary kidney diseases, causes gradual growth of cysts in the kidneys, leading to renal failure. Owing to the advanced technology of next-generation sequencing (NGS), genetic analyses of the causative genes PKD1 and PKD2 have been improved. METHODS:We performed genetic analyses of 111 Japanese ADPKD patients using hybridization-based NGS and long-range (LR)-PCR-based NGS. Additionally, genetic analyses in exon 1 of PKD1 using Sanger sequencing because of an extremely low coverage of NGS and those using multiplex ligation-dependent probe amplification (MLPA) were performed. RESULTS:The detection rate using NGS for 111 patients was 86.5%. One mutation in exon 1 of PKD1 and five deletions detected by MLPA were identified. When combined, the total detection rate was 91.9%. CONCLUSION:Although NGS is useful, we propose the addition of Sanger sequencing for exon 1 of PKD1 and MLPA as indispensable for identifying mutations not detected by NGS.
journal_name
Clin Exp Nephroljournal_title
Clinical and experimental nephrologyauthors
Mochizuki T,Teraoka A,Akagawa H,Makabe S,Akihisa T,Sato M,Kataoka H,Mitobe M,Furukawa T,Tsuchiya K,Nitta Kdoi
10.1007/s10157-019-01736-3subject
Has Abstractpub_date
2019-08-01 00:00:00pages
1022-1030issue
8eissn
1342-1751issn
1437-7799pii
10.1007/s10157-019-01736-3journal_volume
23pub_type
杂志文章abstract::A 77-year-old Japanese female developed Churg-Strauss syndrome (CSS), showing fever and numbness in bilateral hands. She was being treated for bronchial asthma with combination inhalant of corticosteroid with beta(2)-agonist, and an oral leukotriene receptor antagonist (LTRA), montelukast, for 15 months. She presented...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-010-0313-0
更新日期:2010-12-01 00:00:00
abstract::A 77-year-old man with a history of hypertension and hyperuricemia was admitted to our hospital complaining of limb weakness, persistent constipation, and worsening hypertension. He had been taking a Chinese herbal remedy for allergic rhinitis for the past 10 years, together with an angiotensin-converting enzyme inhib...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-006-0415-x
更新日期:2006-06-01 00:00:00
abstract::We report a case of acute kidney injury (AKI) caused by a novel direct renin inhibitor, aliskiren. A 43-year-old Japanese man with dilated cardiomyopathy on cardiac resynchronization therapy with defibrillator and chronic kidney disease (CKD) was started on aliskiren in addition to enalapril, carvedilol, furosemide, a...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-011-0566-2
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:Chronic kidney disease (CKD) is a common disease, affecting about 10% of the general population. The genetic component about CKD incidence in Asian population is not well known. The aim of the study is to find the genetic loci associated with incident CKD and to figure out the effect of genetic variation on ...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10157-019-01731-8
更新日期:2019-08-01 00:00:00
abstract::Recently, there has been a paradigm shift away from an emphasis on the role of the endocrine (circulating) renin-angiotensin system (RAS) in the regulation of the sodium and extracellular fluid balance, blood pressure, and the pathophysiology of hypertensive organ damage toward a focus on the role of tissue RAS found ...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,评审
doi:10.1007/s10157-011-0568-0
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND:In patients with IgA nephropathy (IgAN), recurrence after steroid pulse therapy is associated with reduced renal survival. However, the predictors of recurrence have not yet been clarified. METHODS:All patients who received 6-month steroid pulse therapy from 2004 to 2010 in our four affiliated hospitals and...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10157-015-1170-7
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:The Stewart model for analyzing acid-base disturbances emphasizes serum albumin levels, which are ignored in the traditional Boston model. We compared data derived using the Stewart model to those using the Boston model in patients with nephrotic syndrome. METHODS:Twenty-nine patients with nephrotic syndrom...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-017-1387-8
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:Liposomal amphotericin B (L-AMB), a broad-spectrum antifungicidal drug, is often used to treat fungal infections. However, clinical evidence of its use in patients with renal dysfunction, especially those receiving renal replacement therapy (RRT), is limited. Therefore, we evaluated the usage and occurrence ...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-020-01989-3
更新日期:2020-11-11 00:00:00
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journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-015-1127-x
更新日期:2016-02-01 00:00:00
abstract::Unique renal histopathological appearances, consisting of podocytic infolding and microstructures in the glomerular basement membrane (GBM) were identified in the renal biopsies from three patients with collagen diseases such as systemic lupus erythematosus (lupus nephritis, class II) and Sjögren's syndrome. In each c...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-008-0098-6
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:The number of patients with chronic kidney disease (CKD) in Japan is currently rising. Therefore, measures to control the progression of CKD from a predialysis condition to endstage renal failure are urgently required. We are conducting a clinical trial to investigate the efficacy of an oral carbonaceous ads...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-005-0358-7
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:Phosphodiesterase type IV (PDEIV) plays an important role in the immune response and inflammation. However, it is well known that classical PDEIV inhibitors have systemic side effects, so the clinical and chronic use of these agents as therapy for glomerulonephritis is difficult. This study was performed to ...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-010-0342-8
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Cardiovascular disease is a major complication in patients with end-stage renal disease (ESRD). The accumulation of advanced glycation end products (AGEs) is facilitated in these patients. The aim of this study was to investigate the relationship between circulating AGEs and cardiovascular events in hemodial...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-011-0573-3
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:Autosomal dominant polycystic disease (ADPKD) often results in renal failure. Recently, allelic influences of PKD1 mutation types on renal survival were extensively investigated. Here, we analyzed integrated influences of PKD1 mutation types and positions on renal survival. METHODS:We included 338 (82 pedig...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10157-017-1477-7
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:Dotinurad, a novel selective urate reabsorption inhibitor (SURI), reduces serum uric acid levels by selectively inhibiting urate transporter 1 (URAT1) for the treatment of hyperuricemia with or without gout. We confirmed the serum uric acid lowering effect and safety of dotinurad. METHODS:This was a confirm...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s10157-019-01818-2
更新日期:2020-03-01 00:00:00
abstract::The case of a 63-year-old woman with a relatively rapidly growing angiomyolipoma (AML) originating from the right renal sinus is presented. The tumor had enlarged to more than fivefold in volume (7.4 × 6.7 × 10.1 cm) in the 7 years following its detection (5.6 × 3.4 × 4.6 cm) and had significantly pushed aside the duo...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-011-0519-9
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Serum cystatin C is not only a marker of renal function but also acts as an independent risk factor for cardiovascular damage, heart failure, and death. It is known that the initiation and progression of these cardiovascular events contributes to renal dysfunction and chronic inflammation. In this study, we ...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-010-0334-8
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Mortality in the first year of maintenance dialysis is higher than in subsequent years and, within this first year, the risk of death is highest in the first 90 days. Some studies have shown that pre-dialysis education reduces early mortality. Limited data have been published from South Africa regarding earl...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10157-015-1125-z
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:Maxacalcitol (22-oxacalcitriol; OCT) is a novel vitamin D analogue. In previous clinical studies, OCT was administered three times a week to hemodialysis patients with refractory secondary hyperparathyroidism (2HPT), in whom it acted by inhibiting parathyroid hormone secretion, as well as causing mildly elev...
journal_title:Clinical and experimental nephrology
pub_type: 临床试验,杂志文章
doi:10.1007/s10157-004-0283-1
更新日期:2004-06-01 00:00:00
abstract:BACKGROUND:Hematuria is the first manifestation of urinary abnormality in immunoglobulin A nephropathy (IgAN). Hematuria has recently been reported as a risk factor for deterioration of renal function; however, its cause remains unknown. METHODS:We analyzed the surface marker of peripheral blood mononuclear cells befo...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-014-0968-z
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND:Although acute kidney injury (AKI) is known as a potential complication of influenza infections, there is limited information concerning the association between influenza and AKI. The aim of this study is to evaluate the incidence, the mortality, and risk factors of AKI in hospitalized patients by seasonal i...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-020-02006-3
更新日期:2021-01-04 00:00:00
abstract::We herein report two cases of patients with chronic kidney disease who developed hypertensive encephalopathy, which occurred after a sudden discontinuance of antihypertensive agents. Both patients underwent care at our hospital after experiencing neurological abnormalities. In both patients, magnetic resonance imaging...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章,评审
doi:10.1007/s10157-009-0252-9
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:The activation of the nuclear factor-κB (NF-κB) signaling pathway gives rise to inflammation in the pathogenesis of lupus nephritis (LN), with A20 serving as a negative feedback regulator and ubiquitin C‑terminal hydrolase L1 (UCH-L1) acting as a downstream target protein. However, their roles in the mechani...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-019-01826-2
更新日期:2020-02-01 00:00:00
abstract::We present a case of proliferative glomerulonephritis with peculiar IgM deposition associated with sarcoidosis. A 62-year-old woman, who had been diagnosed with sarcoidosis 3 years previously because of abnormalities on chest X-ray radiophotographs and lymph node pathology, was admitted to our hospital for the evaluat...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-005-0390-7
更新日期:2006-03-01 00:00:00
abstract::A 68-year-old man with a 30-year history of essential thrombocytosis developed nephrotic syndrome. Renal biopsy showed massive deposits of Congo red-negative periodic acid Schiff (PAS)-positive substance in the mesangium and capillary wall that was positive for IgG. Electron microscopic examination revealed 10- to 20-...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-003-0250-2
更新日期:2003-12-01 00:00:00
abstract:BACKGROUND:Hyperuricemia is an established risk factor for cardiovascular events and mortality. This study investigated the association between serum uric acid and the incidence of nonfatal stroke in a Japanese community-based population. METHODS:We used a nationwide database of 155,322 subjects (aged 40-73, male 39 %...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-016-1311-7
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:We previously reported a significant increase in plasma TGF-beta1 in patients with chronic renal failure (CRF). Progression of CRF may be caused by persistent renal production of TGF-beta1. In CRF rat models, an oral carbonic absorbent (AST-120) reduces the expression of the TGF-beta1 gene in the kidney, and...
journal_title:Clinical and experimental nephrology
pub_type: 临床试验,杂志文章
doi:10.1007/s10157-006-0441-8
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:The present study aimed to clarify the beneficial effect of allopurinol on cardiovascular morbidity and mortality in a cohort of hypertensive nephropathy patients with impaired kidney function. METHODS:One hundred and seventy-eight patients diagnosed with hypertensive nephropathy and presenting with impaire...
journal_title:Clinical and experimental nephrology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s10157-012-0742-z
更新日期:2013-08-01 00:00:00
abstract:BACKGROUND:Dotinurad is a novel, selective urate reabsorption inhibitor (SURI), which reduces serum uric acid levels by selective inhibition of the urate transporter 1 (URAT1). The Japanese guideline for the management of hyperuricemia and gout recommends that drug selection should be based on classification of hyperur...
journal_title:Clinical and experimental nephrology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s10157-020-01857-0
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:The aim of this study was to evaluate the renal preservation effect of ubiquinol, the reduced form of coenzyme Q10 (CoQ10). METHODS:Three-week-old heminephrectomized male Sprague-Dawley rats were divided into three groups (10 animals each): diet with normal (0.3%) salt, high (8%) salt, and high salt plus 60...
journal_title:Clinical and experimental nephrology
pub_type: 杂志文章
doi:10.1007/s10157-010-0350-8
更新日期:2011-02-01 00:00:00