A5055654047- Renal Diseases and Glomerulopathies
- Platelet Disorders and Treatments
- Chronic Kidney Disease and Diabetes
- Renal and related cancers
- Cell Adhesion Molecules Research
- Vasculitis and related conditions
- Autoimmune Bullous Skin Diseases
- Systemic Lupus Erythematosus Research
- Genetic and Kidney Cyst Diseases
- Complement system in diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Ion Transport and Channel Regulation
- Biomedical Research and Pathophysiology
- RNA Research and Splicing
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genetic Syndromes and Imprinting
- Adolescent and Pediatric Healthcare
- Magnesium in Health and Disease
- Liver Diseases and Immunity
- Pediatric Urology and Nephrology Studies
- Celiac Disease Research and Management
- Electrolyte and hormonal disorders
- Urticaria and Related Conditions
- Gout, Hyperuricemia, Uric Acid
- Pregnancy and Medication Impact
Wakayama Medical University
2015-2024
Juntendo University
2024
Tsurugi Hospital
2018
Kindai University
2014
Nagoya Medical Center
2012
Osaka University
2009-2011
Osaka University Hospital
2004
Objective. SSc is an autoimmune disease characterized by fibrosis of the skin and internal organs. Although aetiology remains uncertain, many reports have suggested that IL-6 involved in pathogenesis. Tocilizumab, anti-IL-6 receptor antibody, anti-arthritis medicine works through blockade functions. To examine effect tocilizumab on SSc, we administered to two patients. Methods. Two dcSSc patients were at 8 mg/kg once a month for 6 months. One patient had pulmonary assessed CT spirometry,...
In this multicenter, open-label, randomized controlled trial, we determined whether 2-month prednisolone therapy for steroid-sensitive nephrotic syndrome was inferior or not to 6-month despite significantly less steroid exposure. The primary end point time from start of initial treatment frequently relapsing syndrome. pre-specified non-inferiority margin a hazard ratio 1.3 with one-sided significance 5%. We randomly assigned 255 children an episode either 2 - which 246 were eligible final...
Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be delayed by renin-angiotensin inhibitors. However, whether all patients and different genotypes respond equally well to this kidney-protective therapy remains unclear. Here, we performed a retrospective study on 430 with male X-linked syndrome examine relationships among prognosis, genotype, treatment effect large cohort of Japanese patients. We analyzed clinical features, genotype-phenotype correlation,...
IntroductionX-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal in early or middle adulthood, severity strongly correlated with genotype. However, the clinical course female has rarely been reported.MethodsWe conducted retrospective analysis of females genetically proven XLAS (n = 275) their affected family members 61) from 179 Japanese families....
Numerous disease-causing gene mutations have been identified in proteinuric diseases, such as nephrotic syndrome and glomerulosclerosis. This report describes the results of comprehensive genetic diagnosis Japanese patients with severe proteinuria. In addition, clinical characteristics monogenic mutations. We conducted screening who had either congenital syndrome, infantile steroid-resistant or focal segmental glomerular sclerosis. Using targeted next-generation sequencing, 60...
Background Nephrotic syndrome is the most common cause of chronic glomerular disease in children. Most these patients develop steroid-sensitive nephrotic (SSNS), but loci conferring susceptibility to childhood SSNS are mainly unknown. Methods We conducted a genome-wide association study (GWAS) Japanese population; 224 with and 419 adult healthy controls were genotyped using Affymetrix Japonica Array discovery stage. Imputation for six HLA genes ( HLA-A , -C, -B -DRB1 -DQB1 -DPB1 ) was on...
Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed chance blood test. Aside from that, some also tetanic symptoms associated with hypokalemia and/or hypomagnesemia or short stature. As for complications, thyroid dysfunction and stature known, but the incidence rates these complications have not yet been elucidated. In addition, no genotype-phenotype correlation has identified in GS.We examined clinical characteristics genetically proven...
To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations HLA-DR/DQ region, common variants NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR) =1.90) TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions achieved significance were replicated Korean, South Asian African populations. Trans-ethnic meta-analyses including...
Significance Statement Rituximab is the standard therapy for childhood-onset complicated frequently relapsing or steroid-dependent nephrotic syndrome (FRNS/SDNS). However, most patients redevelop FRNS/SDNS after peripheral B cell recovery. This multicenter, randomized, double-blind, placebo-controlled trial was conducted to examine whether mycophenolate mofetil (MMF) administration rituximab can prevent treatment failure (FRNS, SDNS, steroid resistance, use of immunosuppressive agents...
Nephritis is a common manifestation of IgA vasculitis and morphologically indistinguishable from nephropathy. While MEST-C scores are predictive kidney outcomes in nephropathy, their value nephritis has not been investigated large multiethnic cohorts.
Background X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation male XLAS relatively well established; relative to truncating mutations, nontruncating exhibit milder phenotypes. However, transcript comparison between cases with splicing abnormalities that result premature stop codon and those has not been reported, mainly because analysis routinely conducted patients XLAS. Methods We examined expression...
Abstract Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact unknown. We predicted based on multiple genome databases, HGVD jMorp for Japanese population gnomAD other ethnicities, included all 274 pathogenic missense or nonsense variants registered HGMD Professional. The frequencies these alleles were summed to calculate total variant...
Abstract Since the beginning of 1990s, Japanese medical practitioners have extensively prescribed angiotensin-converting enzyme (ACE) inhibitors for children with mild IgA nephropathy (IgA-N) and steriods those severe IgA-N. We performed a retrospective cohort study to clarify whether long-term outcome has improved in Renal survival was defined as time from onset end-stage renal disease (ESRD). divided period into two periods based on occurrence initial biopsy:1976–1989 1990–2004. Actuarial...
In polycystic kidney disease (PKD), cyst lining cells show polarity abnormalities. Recent studies have demonstrated loss of cell contact in cells, suggesting induction epithelial-to-mesenchymal transition (EMT). Recently, EMT has been implicated the pathogenesis PKD. To explore further evidence PKD, we examined age- and segment-specific expression adhesion molecules mesenchymal markers PCK rats, an orthologous model human autosomal-recessive Kidneys from 5 male control rats each at 0 days,...
Abstract Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and screening have been published. Methods In this study, 441 patients clinically suspected of having AS were divided into two groups compared. The initial mutational method involved targeted exome using...
COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS nonsense variants have the most severe phenotypes early onset end-stage kidney disease (ESKD); those splicing middle and missense mildest phenotypes. Therefore, genotyping for male can be used to predict prognosis. Single-base substitutions at last nucleotide position in each exon are known affect patterns could variants. Nevertheless, XLAS, these generally considered variants, without conducting...