2,797 results match your criteria Alport Syndrome

Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.

Kidney360 2022 Mar 13;3(3):497-505. Epub 2021 Oct 13.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Background: Alport syndrome is an inherited disorder characterized by progressive renal disease, variable sensorineural hearing loss, and ocular abnormalities. Although many pathogenic variants in and have been identified in patients with autosomal Alport syndrome, synonymous mutations in these genes have rarely been identified.

Methods: We conducted splicing analysis using Human Splicing Finder (HSF) and Alamut to predict splicing domain strength and disruption of the sites. Read More

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Machine learning approaches to explore digenic inheritance.

Trends Genet 2022 May 14. Epub 2022 May 14.

Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10065, USA. Electronic address:

Some rare genetic disorders, such as retinitis pigmentosa or Alport syndrome, are caused by the co-inheritance of DNA variants at two different genetic loci (digenic inheritance). To capture the effects of these disease-causing variants and their possible interactive effects, various statistical methods have been developed in human genetics. Analogous developments have taken place in the field of machine learning, particularly for the field that is now called Big Data. Read More

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Urinary Monocyte Chemoattractant Protein-1 in Patients With Alport Syndrome.

Kidney Int Rep 2022 May 1;7(5):1112-1114. Epub 2022 Feb 1.

Novartis Institutes for Biomedical Research, Cambridge, Massachusetts, USA.

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Novel Therapies for Alport Syndrome.

Front Med (Lausanne) 2022 25;9:848389. Epub 2022 Apr 25.

Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL, United States.

Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria and progressive kidney failure. It is characterized by a defective glomerular basement membrane caused by mutations in type IV collagen genes which result in defective type IV collagen α3, α4, or α5 chains, respectively. Alport syndrome has three different patterns of inheritance: X-linked, autosomal and digenic. Read More

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Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine.

Annu Rev Genomics Hum Genet 2022 May 10. Epub 2022 May 10.

Center for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email:

Metazoans have evolved to produce various types of extracellular matrix (ECM) that provide structural support, cell adhesion, cell-cell communication, and regulated exposure to external cues. Epithelial cells produce and adhere to a specialized sheet-like ECM, the basement membrane, that is critical for cellular homeostasis and tissue integrity. Mesenchymal cells, such as chondrocytes in cartilaginous tissues and keratocytes in the corneal stroma, produce a pericellular matrix that presents optimal levels of growth factors, cytokines, chemokines, and nutrients to the cell and regulates mechanosensory signals through specific cytoskeletal and cell surface receptor interactions. Read More

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Simultaneous stabilization of actin cytoskeleton in multiple nephron-specific cells protects the kidney from diverse injury.

Nat Commun 2022 May 3;13(1):2422. Epub 2022 May 3.

Department of Medicine, Harvard Medical School and Division of Nephrology, Massachusetts General Hospital, Boston, MA, USA.

Chronic kidney diseases and acute kidney injury are mechanistically distinct kidney diseases. While chronic kidney diseases are associated with podocyte injury, acute kidney injury affects renal tubular epithelial cells. Despite these differences, a cardinal feature of both acute and chronic kidney diseases is dysregulated actin cytoskeleton. Read More

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A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

J Nephrol 2022 Apr 30. Epub 2022 Apr 30.

Renal Division, Peking University First Hospital, Kidney Genetic Center, Peking University Institute of Nephrology, No. 8 Xi Shi Ku Street, Xi Cheng District, Beijing, 100034, People's Republic of China.

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Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end stage renal disease of unknown origin - a single center analysis.

Nephrol Dial Transplant 2022 Apr 29. Epub 2022 Apr 29.

Department of Medicine I - Nephrology, Transplantation & Medical Intensive Care, University Witten/Herdecke, Medical Center Cologne-Merheim, Germany.

Background: The prevalence of end stage renal disease of unknown etiology in adult patients is globally high and accounts for almost 20% of all dialysis patients. Recent studies have suggested that the percentage of adult patients with a causal genetic variant has been underestimated so far. Despite severe prognostic and therapeutic implications, awareness about prevalence and manifestations of genetic kidney diseases in adult renal patients is still limited. Read More

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Alport syndrome: A case study of chronic type A aortic dissection.

J Card Surg 2022 Apr 9. Epub 2022 Apr 9.

Department of Cardiovascular Surgery, Chiba University Hospital, Chiba, Japan.

A 39-year-old woman with a history of Alport syndrome was admitted to our hospital for heart failure due to severe aortic regurgitation. Computed tomography revealed a chronic type A aortic dissection that required valve-sparing aortic root replacement. The pathological examination demonstrated that elastic fibers in the tunica media of the aortic wall are torn and severely disorganized. Read More

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Outcome of females with Alport syndrome.

Pediatr Nephrol 2022 Apr 27. Epub 2022 Apr 27.

Department of Pediatrics, Division of Pediatric Nephrology, School of Medicine, Akdeniz University, 07070, Antalya, Turkey.

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GWAS of Hematuria.

Clin J Am Soc Nephrol 2022 Apr 26. Epub 2022 Apr 26.

Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada

Background And Objectives: Glomerular hematuria has varied causes but can have a genetic basis, including Alport syndrome and IgA nephropathy.

Design, Setting, Participants, & Measurements: We used summary statistics to identify genetic variants associated with hematuria in White British UK Biobank participants. Individuals with glomerular hematuria were enriched by excluding participants with genitourinary conditions. Read More

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Tensin 2-deficient nephropathy - mechanosensitive nephropathy, genetic susceptibility.

Exp Anim 2022 Apr 19. Epub 2022 Apr 19.

Laboratory of Laboratory Animal Science and Medicine, School of Veterinary Medicine, Kitasato University.

Tensin 2 (TNS2), a focal adhesion protein, is considered to anchor focal adhesion proteins to β integrin as an integrin adaptor protein and/or serve as a scaffold to facilitate the interactions of these proteins. In the kidney, TNS2 localizes to the basolateral surface of glomerular epithelial cells, i.e. Read More

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Case Report: Identification of a Novel Heterozygous Missense Mutation in Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family.

Front Genet 2022 29;13:839212. Epub 2022 Mar 29.

Department of Nephrology, Wuhan No.1 Hospital, Wuhan, China.

Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only for the diagnosis of AS but also for the establishment of genotype-phenotype correlation. We herein report the identification of a novel heterozygous missense mutation in gene (c. Read More

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Pathogenic Variants and Kidney Disease.

Kidney360 2021 Dec 30;2(12):1876-1879. Epub 2021 Dec 30.

Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Melbourne, Australia.

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December 2021

Clear Evidence of Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.

Kidney360 2021 Dec 15;2(12):1968-1978. Epub 2021 Oct 15.

Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.

Background: Pathogenic variants in single genes encoding podocyte-associated proteins have been implicated in about 30% of steroid-resistant nephrotic syndrome (SRNS) patients in children. However, gene biallelic variants have been identified in only seven patients so far, and most are missense variants of unknown significance. Furthermore, no functional analysis had been conducted for all but one of these variants. Read More

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December 2021

Optimizing the Electronic Health Record for Clinical Research: Has the Time Come?

Kidney360 2021 Dec 30;2(12):1880-1881. Epub 2021 Dec 30.

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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December 2021

Identification of 27 Novel Variants in Genes , and in Lithuanian Families With Alport Syndrome.

Front Med (Lausanne) 2022 28;9:859521. Epub 2022 Mar 28.

Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Introduction: Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations. Pathogenic variants in usually cause X-linked Alport syndrome (XLAS), whereas those in the or genes are associated with autosomal dominant (AD) or recessive (AR) inheritance. To date, more than 3000 different disease-causing variants in , and have been identified. Read More

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Platelet-rich plasma and macular hole surgery: A clue to their mode of action and the influence of anti-platelet agents.

Eur J Ophthalmol 2022 Apr 13:11206721221093601. Epub 2022 Apr 13.

Newcastle Eye Centre, 5983The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Purpose: To present a case of refractory full-thickness macular hole (FTMH), in which autologous platelet-rich plasma (aPRP) was used on two consecutive occasions, and associated with successful closure only after complete cessation of anti-platelet therapy.

Methods: Interventional case report.

Results: A 63-year-old male with Alport syndrome underwent pars plana vitrectomy with internal limiting membrane peeling and gas for a large FTMH. Read More

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Supernormal foveal photoreceptor density in Alport syndrome: A case report.

Eur J Ophthalmol 2022 Apr 12:11206721221093197. Epub 2022 Apr 12.

Department of Ophthalmology, 39062University of Bonn, Bonn, Germany.

Purpose: To investigate foveal photoreceptor configuration in Alport syndrome, a rare inherited disease characterized by Collagen IV dysfunction.

Methods: Adaptive optics scanning laser ophthalmoscope (AOSLO) imaging of the foveal center and quantitative analysis of cone photoreceptor topography in a 17-year-old male patient with Alport syndrome presenting absence of a foveal avascular zone (FAZ) and foveal hypoplasia in both eyes.

Results: Cone density analysis based on AOSLO images revealed an unusual linear cone topography profile displaying supernormal densities within the fovea (z-scores up to + 3. Read More

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Cooccurrence of Alport syndrome and poststreptococcal acute glomerulonephritis with improvement after steroid administration.

CEN Case Rep 2022 Apr 10. Epub 2022 Apr 10.

Department of Pediatrics, Hokkaido University Hospital, Hokkaido University Graduate School of Medicine, Kita 15-jo Nishi 7-Chome, Kita Ward, Sapporo, Hokkaido, Japan.

It is clinically possible for patients with Alport syndrome (AS) to suffer from poststreptococcal acute glomerulonephritis (PSAGN). However, there is only one report of such a patient, and he had end-stage kidney disease. Here, we describe an 8-year-old male with X-linked AS and chronic kidney disease (CKD) stage G2. Read More

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Branch Retinal Artery Occlusions, Paracentral Acute Middle Maculopathy and Acute Macular Neuroretinopathy After COVID-19 Vaccinations.

Clin Ophthalmol 2022 31;16:987-992. Epub 2022 Mar 31.

Department of Ophthalmology, Faculty of Medicine, Oita University, Yufu, Japan.

Purpose: Potential retinal adverse events after COVID-19 vaccinations reported previously include paracentral acute middle maculopathy (PAMM), acute macular neuroretinopathy (AMN), and central serous chorioretinopathy. We report four cases of branch retinal artery occlusion (BRAO), one case of PAMM, and one case of AMN that occurred after administration of the Pfizer-BioNTech COVID-19 vaccine.

Patients And Methods: We retrospectively reviewed the medical records of six patients who presented to Yame General Hospital or Oita University Hospital from July through October 2021. Read More

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Presumed Missense/Synonymous Variants Induce Aberrant Splicing.

Front Med (Lausanne) 2022 21;9:838983. Epub 2022 Mar 21.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Background: The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed missense and synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling.

Methods: Patients' clinical findings and genetic data were analysed retrospectively. Read More

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[Research progress in diagnosis, treatment and management of Alport syndrome].

Zhonghua Er Ke Za Zhi 2022 Apr;60(4):370-373

Department of Nephrology, Rheumatology and Immunology, Fujian Children's Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou 350014, China.

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Persistent Isolated Hematuria in a Japanese Woman.

Kidney360 2021 Mar 25;2(3):602-603. Epub 2021 Mar 25.

Department of Nephrology, Tokyo Women's Medical University, Tokyo, Japan.

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Identification of Four Novel Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families.

Front Genet 2022 17;13:847777. Epub 2022 Mar 17.

Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.

Chronic renal disease associated with X-linked Alport syndrome (XLAS) is relatively rare. However, due to the lack of specificity in the pathologic and clinical manifestations of the disease, it is easy to be misdiagnosed. In this study, we included three Chinese families with XLAS and used targeted NGS to find gene variants. Read More

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Detection of Very Low-Level Somatic Mosaic Splicing Variant in Asymptomatic Female Using Droplet Digital PCR.

Front Med (Lausanne) 2022 7;9:847056. Epub 2022 Mar 7.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Background: Alport syndrome is a hereditary glomerulopathy featured by haematuria, proteinuria, and progressive renal failure. X-linked Alport syndrome (XLAS) due to disease-causing variants is the most common form. In the case of XLAS resulting from 10-18% presumed disease-causing variants, there are only a few studies for mosaicism in the probands or parents. Read More

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Gross hematuria, edema, and hypocomplementemia in a 9-year-old boy: Answers.

Pediatr Nephrol 2022 Mar 29. Epub 2022 Mar 29.

Department of Pediatric Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, Hubei, China.

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Characterization of Choriocapillaris and Choroidal Abnormalities in Alport Syndrome.

Transl Vis Sci Technol 2022 03;11(3):23

Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Purpose: To analyze the characteristics of the choriocapillaris and the choroid in patients with Alport syndrome (AS) and investigate their clinical and demographic associations.

Methods: Multicenter, cross-sectional study. Forty-two eyes with AS were consecutively enrolled. Read More

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Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis.

Front Cell Dev Biol 2022 4;10:841708. Epub 2022 Mar 4.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

The stria vascularis (SV) is a highly vascularized tissue lining the lateral wall of the cochlea. The SV maintains cochlear fluid homeostasis, generating the endocochlear potential that is required for sound transduction. In addition, the SV acts as an important blood-labyrinth barrier, tightly regulating the passage of molecules from the blood into the cochlea. Read More

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Glomerulus-on-a-Chip: Current Insights and Future Potential Towards Recapitulating Selectively Permeable Filtration Systems.

Int J Nephrol Renovasc Dis 2022 10;15:85-101. Epub 2022 Mar 10.

Division of Nephrology and Endocrinology, The University of Tokyo Graduate School of Medicine, Tokyo, Japan.

Glomerulopathy, characterized by a dysfunctional glomerular capillary wall, results in proteinuria, leading to end-stage renal failure and poor clinical outcomes, including renal death and increased overall mortality. Conventional glomerulopathy research, including drug discovery, has mostly relied on animal experiments because in-vitro glomerulus models, capable of evaluating functional selective permeability, was unavailable in conventional in-vitro cell culture systems. However, animal experiments have limitations, including time- and cost-consuming, multi-organ effects, unstable reproducibility, inter-species reliability, and the social situation in the EU and US, where animal experiments have been discouraged. Read More

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