A5051867714- Renal Diseases and Glomerulopathies
- Cell Adhesion Molecules Research
- Platelet Disorders and Treatments
- Ion Transport and Channel Regulation
- Renal and related cancers
- Chronic Kidney Disease and Diabetes
- Complement system in diseases
- Autoimmune Bullous Skin Diseases
- Vasculitis and related conditions
- Electrolyte and hormonal disorders
- Ion channel regulation and function
- Magnesium in Health and Disease
- RNA Research and Splicing
- Celiac Disease Research and Management
- Pancreatic function and diabetes
- Nephrotoxicity and Medicinal Plants
- Genetic and Kidney Cyst Diseases
- Muscle and Compartmental Disorders
- Gout, Hyperuricemia, Uric Acid
- RNA modifications and cancer
- Systemic Lupus Erythematosus Research
- Renal Transplantation Outcomes and Treatments
- Genetic Syndromes and Imprinting
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Kobe Children's Hospital
2018-2025
Tokyo Women's Medical University
2024
Kobe University
2013-2023
Science for Life Laboratory
2017-2023
Uppsala University
2017-2023
National Center For Child Health and Development
2007-2010
Wakayama Medical University
2007-2008
Ome Municipal General Hospital
2007
Kyoto University Hospital
1977-1978
Kyoto Prefectural Institute of Public Health and Environment
1976
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...
Background and objectives Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, ocular abnormalities. Autosomal dominant caused by heterozygous mutations in collagen 4A3 and/or 4A4 accounts for <5% patients. However, the clinical, genetic, pathologic backgrounds patients with autosomal remain unclear. Design, setting, participants, & measurements We conducted retrospective analysis 25 genetically proven their family members (a total 72...
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS 17 families with partially treatment-sensitive (pTSNS). These proteins interact and delineate their roles Rho-like small GTPase (RLSG) activity, demonstrate deficiency mutants pTSNS patients. We find that CDK20 regulates DLC1. Knockdown MAGI2, or cultured podocytes reduces migration rate....
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....
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...
<h3>Background:</h3> Bartter syndrome (BS) is a genetic disorder accompanied by hypokalaemic metabolic alkalosis. BS with sensorineural deafness (SND, OMIM602522) newly identified phenotype caused mutations in the <i>BSND</i> gene that encodes barttin, β-subunit for chloride channel ClC-Ka and ClC-Kb classified as type IV BS. Type features most severe entailing life-threatening neonatal volume depletion chronic renal failure developing during infancy. A recent report described case of SND...
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...
Our understanding of inherited salt-losing tubulopathies has improved with recent advances in molecular genetics. However, the terminology Bartter syndrome and Gitelman does not always accurately reflect their pathophysiological basis or clinical presentation, some patients are difficult to diagnose from presentations.In present study, we conducted analysis diuretic tests for clarify pharmacological characteristics these disorders.We detected mutations subsequently using furosemide thiazide...