2,418 results match your criteria Alport Syndrome


The Regenerative Potential of Amniotic Fluid Stem Cell Extracellular Vesicles: Lessons Learned by Comparing Different Isolation Techniques.

Sci Rep 2019 Feb 12;9(1):1837. Epub 2019 Feb 12.

Developmental and Stem Cell Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada.

Extracellular vesicles (EVs) derived from amniotic fluid stem cells (AFSCs) mediate anti-apoptotic, pro-angiogenic, and immune-modulatory effects in multiple disease models, such as skeletal muscle atrophy and Alport syndrome. A source of potential variability in EV biological functions is how EV are isolated from parent cells. Currently, a comparative study of different EV isolation strategies using conditioned medium from AFSCs is lacking. Read More

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http://dx.doi.org/10.1038/s41598-018-38320-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372651PMC
February 2019
1 Read

Identification of a Novel Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS).

Front Genet 2018 28;9:748. Epub 2019 Jan 28.

Department of Nephrology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Alport syndrome (AS) is a rare and inherited renal disorder with an autosomal recessive mode of inheritance. AS patients usually manifest with hematuria and progressive renal disorder also occasionally accompanied by hearing loss and ophthalmic disease. Germline variants in collagen type IV α-4 () gene lead to autosomal recessive Alport syndrome. Read More

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http://dx.doi.org/10.3389/fgene.2018.00748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360158PMC
January 2019
1 Read

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

Am J Med Genet A 2019 Feb 8. Epub 2019 Feb 8.

Département de Génétique et Procréation, Centre Hospitalo-Universitaire Grenoble Alpes, Grenoble Cedex, France.

The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.61057DOI Listing
February 2019
1 Read

Endothelial Cell-Specific Collagen IV α3 Expression Does not Rescue Alport Syndrome in Col4a3-/- Mice.

Am J Physiol Renal Physiol 2019 Feb 6. Epub 2019 Feb 6.

Medince/Division of Nephrology, Washington University School of Medicine, United States.

The glomerular basement membrane (GBM) is a critical component of the kidney's blood filtration barrier. Alport syndrome, a hereditary disease leading to kidney failure, is caused by the loss or dysfunction of the GBM's major type IV collagen (COL4) isoform, α3α4α5. The constituent COL4 achains assemble into heterotrimers in the endoplasmic reticulum prior to secretion into the extracellular space. Read More

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https://www.physiology.org/doi/10.1152/ajprenal.00556.2018
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http://dx.doi.org/10.1152/ajprenal.00556.2018DOI Listing
February 2019
2 Reads

Features of Autosomal Recessive Alport Syndrome: A Systematic Review.

J Clin Med 2019 Feb 3;8(2). Epub 2019 Feb 3.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul 03080, Korea.

Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked (XLAS) inheritance is the most common form, cases with autosomal recessive inheritance with mutations in or are being increasingly recognized. A systematic review was conducted on autosomal recessive Alport syndrome (ARAS). Read More

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http://dx.doi.org/10.3390/jcm8020178DOI Listing
February 2019
1 Read

[Advances in research on gene and cell therapy for type IV collagen related hereditary kidney diseases].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):179-182

Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.

Type IV collagen is a component of the extracellular matrix in the basement membrane. Abnormal secretion or assembly of type IV collagen may lead to kidney lesions resulting in numerous nephropathy symptoms, e.g. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.02.022DOI Listing
February 2019
1 Read

Clinical features of cardiac lesion in patients with generalized sarcoidosis.

Ter Arkh 2018 Feb;90(1):54-59

I.M. Sechenov First Moscow State Medical University, Faculty of Medicine, Chair of Internal Medicine No.1, Moscow, Russia.

The article presents a clinical observation of two patients with generalized sarcoidosis. The woman typical granulomatous changes in the lungs and lymph nodes combined with atrial fibrillation, kidney failure and hereditary thrombophilia, men with atherosclerotic coronary arteries, re-myocardial infarction, cholestasis, tubulointerstitial nephritis. The accession of systemic manifestations was accompanied by increase of level of angiotensin-converting enzyme in the blood serum, morphological examination of lung tissue in both cases there were high histological activity of vasculitis and granulomatous inflammation. Read More

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http://dx.doi.org/10.26442/terarkh201890154-59DOI Listing
February 2018
1 Read

Kidney Injury by Variants in the Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.

Int J Mol Sci 2019 Jan 26;20(3). Epub 2019 Jan 26.

Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, 37075 Goettingen, Germany.

Kidney injury due to focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disorder causing end-stage renal disease. Homozygous mutations in either glomerular basement membrane or slit diaphragm genes cause early renal failure. Heterozygous carriers develop renal symptoms late, if at all. Read More

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http://dx.doi.org/10.3390/ijms20030519DOI Listing
January 2019
1 Read

Pathologic glomerular characteristics and glomerular basement membrane alterations in biopsy-proven thin basement membrane nephropathy.

Clin Exp Nephrol 2019 Jan 28. Epub 2019 Jan 28.

Department of Analytic Human Pathology, Nippon Medical School, 1-1-5, Sendagi, Bunkyoku, Tokyo, 113-8602, Japan.

Background: Thin basement membrane nephropathy (TBMN) is diagnosed by diffuse thinning of the glomerular basement membrane (GBM) without any clinical and pathologic findings of Alport syndrome and the other renal diseases. TBMN is characterized clinically by benign familial hematuria but rarely develops into end-stage renal disease.

Methods: In 27 cases of biopsy-proven TBMN, we evaluated the pathologic characteristics of TBMN, and examined the correlation between these pathologic characterizations and renal dysfunction. Read More

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http://dx.doi.org/10.1007/s10157-018-01687-1DOI Listing
January 2019
1 Read

Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.

Nephron 2019 Jan 18:1-6. Epub 2019 Jan 18.

Department of Nephrology and Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany.

Microscopic hematuria is a common feature of patients with Alport syndrome, a familial nephropathy due to mutations in COL4A3, COL4A4 or COL4A5. These genes encode for α3, α4, and α5 type IV collagen polypeptide chains (collagen IV α345), crucial for the structural component of the glomerular basement membrane. Even patients with mild phenotype, namely isolated microhematuria (X-linked females with thin basement membrane on electron microscopy or heterozygous carriers of COL4A3 or COL4A4 mutations), can potentially progress to proteinuria and to end-stage renal disease. Read More

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http://dx.doi.org/10.1159/000495764DOI Listing
January 2019
1 Read

Genetic diagnosis of Alport syndrome.

Authors:
Hae Il Cheong

Korean J Pediatr 2019 Jan 3. Epub 2019 Jan 3.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul 03080, Korea.

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http://dx.doi.org/10.3345/kjp.2018.07339DOI Listing
January 2019
2 Reads

Acute kidney injury in childhood-onset nephrotic syndrome: Incidence and risk factors in hospitalized patients.

Kidney Res Clin Pract 2018 Dec 31;37(4):347-355. Epub 2018 Dec 31.

Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.

Background: Nephrotic syndrome (NS) is the most common glomerulopathy in children. Acute kidney injury (AKI) is a common complication of NS, caused by severe intravascular volume depletion, acute tubular necrosis, interstitial nephritis, or progression of NS. However, the incidence and risk factors of childhood-onset NS in Korea are unclear. Read More

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http://www.krcp-ksn.org/journal/view.html?doi=10.23876/j.krc
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http://dx.doi.org/10.23876/j.krcp.18.0098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312784PMC
December 2018
5 Reads

Bilateral Anterior Lenticonus associated with Alport Syndrome.

QJM 2018 Dec 31. Epub 2018 Dec 31.

Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1093/qjmed/hcy299DOI Listing
December 2018
3 Reads

Establishment of X-linked Alport syndrome model mice with a R471X mutation.

Biochem Biophys Rep 2019 Mar 12;17:81-86. Epub 2018 Dec 12.

Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, 2-26-1, Muraoka-Higashi, Fujisawa, Kanagawa, 251-8555, Japan.

Alport syndrome (AS) is an inherited disorder characterized by glomerular basement membrane (GBM) abnormality and development of chronic kidney disease at an early age. The cause of AS is a genetic mutation in type IV collagen, and more than 80% of patients have X-linked AS (XLAS) with mutation in . Although the causal gene has been identified, mechanisms of progression have not been elucidated, and no effective treatment has been developed. Read More

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http://dx.doi.org/10.1016/j.bbrep.2018.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295608PMC
March 2019
1 Read

Extracellular Matrix: Alport Syndrome.

Adv Exp Med Biol 2018 ;1085:197-198

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Patients present with X-linked inheritance; Alport syndrome occurs in approximately 1 in 50,000 newborns. The systemic features include progressive interstitial nephritis, renal failure by the fifth decade, and neurosensory deafness. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_41
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http://dx.doi.org/10.1007/978-3-319-95046-4_41DOI Listing
January 2018
8 Reads

X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Orphanet J Rare Dis 2018 Dec 22;13(1):229. Epub 2018 Dec 22.

Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.

Objective: To analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes.

Methods: The clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone audiometry (PTA) testing, acoustic immittance, and otoacoustic emissions (OAE) testing. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0974-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303895PMC
December 2018
12 Reads

Intra-operative Postperfusion Micronephrolithotomy for Renal Allograft Lithiasis: A Case Report.

Transplant Proc 2018 Dec 29;50(10):3950-3953. Epub 2018 May 29.

Kidney Transplantation, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

Increasing demand drives the expansion of criteria for kidney donation, and nephrolithiasis is now considered a relative contraindication. We report for the first time a case of intra-operative, postperfusion kidney allograft micronephrolithotomy. A 64-year-old man with end-stage renal disease secondary to Alport syndrome underwent primary deceased donor kidney transplantation at our center. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00411345183072
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http://dx.doi.org/10.1016/j.transproceed.2018.05.017DOI Listing
December 2018
7 Reads

Diffuse Esophageal Leiomyomatosis in Pediatric Patients: A Systematic Review and Quality of Evidence Assessment.

Eur J Pediatr Surg 2018 Dec 21. Epub 2018 Dec 21.

1st Department of Surgery, Laikon University General Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Background:  Diffuse esophageal leiomyomatosis (DEL) is a rare disorder characterized by benign hypertrophy of esophageal smooth muscle cells. No rigorous summary of available evidence on how to best manage these patients exists.

Objective:  To define the clinical features and outcomes of pediatric patients with DEL. Read More

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http://dx.doi.org/10.1055/s-0038-1676507DOI Listing
December 2018
2 Reads

Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report.

BMC Nephrol 2018 Dec 17;19(1):363. Epub 2018 Dec 17.

Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan.

Background: Although the renal toxicity of Deferasirox, an oral iron chelator, has been reported to be mild, there have been reports of acute interstitial nephritis or Fanconi syndrome due to this agent. Thin basement membrane disease (TBMD) is a hereditary disease characterized primarily by hematuria, with gross hematuria also observed in about 7% of cases. We herein report a case of TBMD that presented with acute kidney injury and gross hematuria during treatment with Deferasirox. Read More

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http://dx.doi.org/10.1186/s12882-018-1180-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298017PMC
December 2018
2 Reads

A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis.

BMC Nephrol 2018 Dec 12;19(1):355. Epub 2018 Dec 12.

Department of Pathology, Stanford University, Stanford, CA, USA.

Background: Renal thrombotic microangiopathy (TMA) is occasionally seen in biopsies with pauci-immune necrotizing crescentic glomerulonephritis (PCGN). Recent study indicated that the complement activation is more prominent in the ANCA-negative glomerulonephritis.

Case Presentation: We report a case of concurrent TMA and PCGN without ANCA positivity. Read More

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http://dx.doi.org/10.1186/s12882-018-1170-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291978PMC
December 2018

Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.

Authors:
Judy Savige

Pediatr Nephrol 2018 Nov 30. Epub 2018 Nov 30.

Department of Medicine, Melbourne Health and Northern Health, The University of Melbourne, Parkville, 3050, Australia.

The diagnosis of Alport syndrome is suspected when an individual has haematuria or renal failure, together with a hearing loss; haematuria or renal failure, and a family history of Alport syndrome; or a pathognomonic Alport feature, such as lenticonus, fleck retinopathy, a lamellated glomerular basement membrane (GBM), or a GBM that lacks the collagen IV α3α4α5 network. The diagnosis of Alport syndrome is optimally confirmed by the demonstration of a mutation in the COL4A5 gene or two mutations in trans in the COL4A3 or COL4A4 genes. In practice, genetic testing for Alport syndrome is not widely available, and even with testing, causative mutations are not demonstrated in 5% of cases. Read More

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http://dx.doi.org/10.1007/s00467-018-4121-1DOI Listing
November 2018
1 Read

Bilateral combined anterior and posterior lenticonus in Alport's Syndrome.

Rom J Ophthalmol 2018 Jul-Sep;62(3):228-230

Department of Ophthalmology, Gajra Raja Medical College, Gwalior, India.

Alport's syndrome is an inherited disease characterized by hearing loss, progressive renal failure and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, fleck retinopathies, and temporal retinal thinning. To have anterior and posterior lenticonus in the same eye in this syndrome is a rare finding and only a few such reports are available. Hereby, we report a case of a 22-year-old male with bilateral combined anterior and posterior lenticonus with sensorineural deafness and nephritis leading to the diagnosis of Alport's syndrome. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256072PMC
February 2019
1 Read

Establishment of microRNA, transcript and protein regulatory networks in Alport syndrome induced pluripotent stem cells.

Mol Med Rep 2019 Jan 20;19(1):238-250. Epub 2018 Nov 20.

State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310003, P.R. China.

Alport syndrome (AS) is an inherited progressive disease caused by mutations in genes encoding for the α3, α4 and α5 chains, which are an essential component of type IV collagen and are required for formation of the glomerular basement membrane. However, the underlying etiology of AS remains largely unknown, and the aim of the present study was to examine the genetic mechanisms in AS. Induced pluripotent stem cells (iPSCs) were generated from renal tubular cells. Read More

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http://dx.doi.org/10.3892/mmr.2018.9672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297794PMC
January 2019
1 Read

De novo mutations in COL4A5 identified by whole exome sequencing in two girls with Alport syndrome in Korea.

Korean J Pediatr 2018 Nov 26. Epub 2018 Nov 26.

Green Cross Genome, Yongin, Korea, Gyeonggi-do, Korea.

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria starting from infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are three known genetic forms of ATS, i. Read More

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2018.06772
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http://dx.doi.org/10.3345/kjp.2018.06772DOI Listing
November 2018
6 Reads

MYH9 Associated nephropathy.

Nefrologia 2018 Nov 21. Epub 2018 Nov 21.

Enfermedades Renales Hereditarias, Servicio de Nefrología, Fundació Puigvert, Barcelona, España; Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, España; Universidad Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, España. Electronic address:

MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and especially in podocytes and mesangial cells. Read More

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http://dx.doi.org/10.1016/j.nefro.2018.08.008DOI Listing
November 2018
1 Read

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases.

Sci Rep 2018 Nov 23;8(1):17322. Epub 2018 Nov 23.

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

CD80, which regulates T cell activation, may provide a differential diagnostic marker between minimal change disease (MCD) and other renal diseases, including focal segmental glomerular sclerosis (FSGS). However, recent reports show contrasting results. Therefore, we evaluated the utility of urinary CD80 as a diagnostic biomarker. Read More

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http://dx.doi.org/10.1038/s41598-018-35798-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251900PMC
November 2018
9 Reads

DNA-encoded library-derived DDR1 inhibitor prevents fibrosis and renal function loss in a genetic mouse model of Alport syndrome.

ACS Chem Biol 2018 Nov 19. Epub 2018 Nov 19.

The importance of DDR1 in renal fibrosis has been shown via gene knockout and use of antisense oligonucleotides; however, these techniques act via a reduction of DDR1 protein while we prove the therapeutic potential of inhibiting DDR1 phosphorylation with a small molecule. To date, efforts to generate a selective small-molecule to specifically modulate the activity of DDR1 in an in vivo model have been unsuccessful. We performed parallel DNA encoded library screens against DDR1 and DDR2, and discovered a chemical series that is highly selective for DDR1 over DDR2. Read More

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http://pubs.acs.org/doi/10.1021/acschembio.8b00866
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http://dx.doi.org/10.1021/acschembio.8b00866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343110PMC
November 2018
21 Reads

Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous or Variant?

Authors:
Judy Savige

Kidney Int Rep 2018 Nov 22;3(6):1239-1241. Epub 2018 Aug 22.

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

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http://dx.doi.org/10.1016/j.ekir.2018.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224634PMC
November 2018
1 Read

Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.

Int J Nephrol Renovasc Dis 2018 16;11:267-270. Epub 2018 Oct 16.

Division of Nephrology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN 55454, USA,

Alport syndrome is an inherited disorder of basement membrane collagen IV that frequently results in end-stage renal disease. Patients with Alport syndrome who undergo renal transplantation have generally excellent outcomes. Posttransplant antiglomerular basement membrane nephritis is a rare complication of renal transplantation for Alport syndrome. Read More

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https://www.dovepress.com/renal-transplantation-in-patients-
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http://dx.doi.org/10.2147/IJNRD.S150539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198874PMC
October 2018
7 Reads

Abnormal Expression of miR-21 in Kidney Tissue of Dogs With X-Linked Hereditary Nephropathy: A Canine Model of Chronic Kidney Disease.

Vet Pathol 2019 Jan 28;56(1):93-105. Epub 2018 Oct 28.

2 Sanofi, Framingham, MA, USA.

MicroRNAs (miRNAs) are a group of small noncoding RNAs that act as regulators of posttranslational gene/protein expression and are known to play a key role in physiological and pathological processes. The objective of our study was to compare expression of miR-21 in renal tissue from dogs affected with chronic kidney disease (CKD) caused by X-linked hereditary nephropathy (XLHN), a disease equivalent to human Alport syndrome, to that from unaffected dogs. Additionally, we sought to characterize changes in relative mRNA expression of various genes associated with miR-21 function. Read More

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http://dx.doi.org/10.1177/0300985818806050DOI Listing
January 2019
17 Reads

Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.

Kidney Int 2018 Nov;94(5):1013-1022

Inserm U1163, Imagine Institute, Paris Descartes University, Paris, France; Adult Nephrology & Transplantation, Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, Paris, France. Electronic address:

Monogenic forms of Steroid-Resistant Nephrotic Syndrome (SRNS) have been widely characterized, but genetic screening paradigms preferentially address congenital, infantile onset, and familial cases. Our aim was to characterize the distribution of disease-causing gene mutations in adults with sporadic SRNS or focal segmental glomerulosclerosis (FSGS). We selected adult patients with non-syndromic, biopsy-proven FSGS or SRNS in the absence of known family history. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00852538183059
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http://dx.doi.org/10.1016/j.kint.2018.07.024DOI Listing
November 2018
16 Reads

[Diffuse esophageal leiomyomatosis and Alport's syndrome: A case report and review of the literature].

Ann Pathol 2019 Feb 12;39(1):36-39. Epub 2018 Oct 12.

Service d'anatomie et cytologie pathologiques, hôpital Nord, chemin des Bourrely, 13015 Marseille, France; U1068-CRCM, Aix Marseille université, 13015 Marseille, France.

Diffuse esophageal leiomyomatosis is a rare esophageal tumor characterized by circumferential thickening of smooth muscle layers. Diffuse esophageal leiomyomatosis can be associated with Alport's syndrome and therefore diagnosed by skin biopsy. Alport syndrome is a hereditary disease usually defined by the association of glomerular nephropathy and perceptual deafness. Read More

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http://dx.doi.org/10.1016/j.annpat.2018.08.007DOI Listing
February 2019
4 Reads

Focal Degeneration of Vestibular Neuroepithelium in the Cristae Ampullares of Three Human Subjects.

Otol Neurotol 2018 Dec;39(10):e1100-e1110

Otopathology Laboratory, Department of Otolaryngology, Massachusetts Eye and Ear Infirmary.

Background: We report a unique pattern of focal degeneration of the neuroepithelium of cristae ampullares, thick subepithelial extracellular deposits, and neural degeneration in three humans.

Objective: To characterize the pattern of vestibular degeneration and measure the thickness of subepithelial deposits in these three cases and controls.

Methods: The subepithelial deposits of vestibular end organs in three subject cases and controls were studied using hematoxylin and eosin, periotic acid-Schiff, Gomori trichrome staining, and immunostaining for antineurofilament, antimyosin VIIa, and anticollagen 4a1. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242718PMC
December 2018
2 Reads

Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.

Kidney Int 2018 Dec 6;94(6):1151-1159. Epub 2018 Oct 6.

Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA; Peggy and Harold Katz Family Drug Discovery Center, University of Miami Miller School of Medicine, Miami, Florida, USA. Electronic address:

Studies suggest that altered renal lipid metabolism plays a role in the pathogenesis of diabetic kidney disease and that genetic or pharmacological induction of cholesterol efflux protects from the development of diabetic kidney disease and focal segmental glomerulosclerosis (FSGS). Here we tested whether altered lipid metabolism contributes to renal failure in the Col4a3 knockout mouse model for Alport Syndrome. There was an eight-fold increase in the cholesterol content in renal cortexes of mice with Alport Syndrome. Read More

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http://dx.doi.org/10.1016/j.kint.2018.06.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278936PMC
December 2018
2 Reads

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Nephrol Dial Transplant 2018 Mar 21. Epub 2018 Mar 21.

Department of Medicine, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Background: Alport syndrome (AS) and atypical hemolytic-uremic syndrome (aHUS) are rare forms of chronic kidney disease (CKD) that can lead to a severe decline of renal function. Steroid-resistant nephrotic syndrome (SRNS) is more common than AS and aHUS and causes 10% of childhood-onset CKD. In recent years, multiple monogenic causes of AS, aHUS and SRNS have been identified, but their relative prevalence has yet to be studied together in a typical pediatric cohort of children with proteinuria and hematuria. Read More

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https://academic.oup.com/ndt/advance-article/doi/10.1093/ndt
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http://dx.doi.org/10.1093/ndt/gfy050DOI Listing
March 2018
15 Reads

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.

CEN Case Rep 2018 Oct 6. Epub 2018 Oct 6.

Department of Pediatrics, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, Japan.

We herein report 2 Japanese patients with X-linked Alport syndrome (XLAS), with a novel variant in COL4A5. Patient 1 was a 16-year-old Japanese girl with a history of microscopic hematuria, without proteinuria, renal dysfunction, deafness, or ocular abnormalities. At 13 years of age, renal biopsy was performed; however, a diagnosis of AS was not considered. Read More

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http://link.springer.com/10.1007/s13730-018-0368-4
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http://dx.doi.org/10.1007/s13730-018-0368-4DOI Listing
October 2018
12 Reads

Long-term survival in Japanese renal transplant recipients with Alport syndrome: a retrospective study.

BMC Nephrol 2018 Oct 3;19(1):249. Epub 2018 Oct 3.

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

Background: Patients with Alport syndrome (AS) develop progressive kidney dysfunction due to a hereditary type IV collagen deficiency. Survival of the kidney allograft in patients with AS is reportedly excellent because AS does not recur. However, several studies have implied that the type IV collagen in the GBM originates from podocytes recruited from the recipient's bone marrow-derived cells, suggesting the possibility of AS recurrence. Read More

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http://dx.doi.org/10.1186/s12882-018-1052-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171154PMC
October 2018
5 Reads
1.520 Impact Factor

Peroral Endoscopic Myotomy in Diffuse Thickened Esophageal Wall in an Adolescent.

Case Rep Gastroenterol 2018 May-Aug;12(2):497-503. Epub 2018 Aug 23.

Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russian Federation.

Achalasia is an extremely rare pathology in children. Peroral endoscopic myotomy (POEM) is the gold standard for the surgical treatment of achalasia in adults, but only a limited number of cases of achalasia treatment using POEM in children have been published in the literature. Sometimes, high-resolution manometry signs of achalasia can mimic diffuse esophageal leiomyoma. Read More

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https://www.karger.com/Article/FullText/492212
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http://dx.doi.org/10.1159/000492212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167675PMC
August 2018
5 Reads

[X-linked Alport syndrome: auditory pathogenic variant features and further genotype-phenotype correlations in female patients].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Aug;32(16):1232-1237

Department of Pediatrics, Peking University First Hospital.

To analyze the audiological characteristics of female patients with X-linked Alport syndrome and to explore the relationship between genotype and phenotype in China. The hearing data of 64 females diagnosed as Alport syndrome was reviewed and analyzed. All coding exons of COL4A5 genes were PCR-amplified and sequenced with genomic DNA, or mRNA of COL4A5 gene was RT-PCR amplified and sequenced with skin fibroblast. Read More

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http://dx.doi.org/10.13201/j.issn.1001-1781.2018.16.006DOI Listing
August 2018
2 Reads

Diagnosing Alport Syndrome: Lessons from the Pediatric Ward.

Nephron 2018 13;140(3):203-210. Epub 2018 Sep 13.

Department of Pediatric Nephrology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.

Background: Alport syndrome is a rare inheritable kidney disease frequently leading to end-stage kidney disease in young adults. Patients could benefit from early recognition of the disease. In several children with Alport syndrome, a parent was noticed to have renal symptoms attributed to another renal disease. Read More

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http://dx.doi.org/10.1159/000492438DOI Listing
September 2018
3 Reads

A Clinical Study of Effect of Hyperpyrexia on Otoacoustic Emissions in Children.

Indian J Otolaryngol Head Neck Surg 2018 Sep 26;70(3):438-449. Epub 2018 Apr 26.

Department of ENT, PES Institute of Medical Science and Research, Kuppam, 517 425 India.

Various degrees of sensory neural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. Otoacoustic emission testing can help to establish the inner ear involvement at an early period of a periodic fever with a risk of hearing loss (Abdul Kadir et al. in J Int Adv Otol 9(2. Read More

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http://link.springer.com/10.1007/s12070-018-1361-0
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http://dx.doi.org/10.1007/s12070-018-1361-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127061PMC
September 2018
14 Reads

INNER MACULAR CHANGES AFTER VITRECTOMY WITH INTERNAL LIMITING MEMBRANE PEELING FOR RHEGMATOGENOUS RETINAL DETACHMENT: Similarity With Alport Syndrome.

Retina 2018 Sep 7. Epub 2018 Sep 7.

Department of Ophthalmology, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Japan.

Purpose: The internal limiting membrane (ILM), the innermost basement membrane of the retina, is peeled occasionally during vitreous surgery. This study aimed to investigate the effect of ILM loss on the retina.

Methods: We used optical coherence tomography to retrospectively evaluate retinal changes in 26 eyes (11 ILM-peeled and 15 ILM-unpeeled eyes) of 26 patients after vitrectomy for retinal detachment. Read More

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http://dx.doi.org/10.1097/IAE.0000000000002310DOI Listing
September 2018
3 Reads

Temporal Bone Histopathology of X-linked Inherited Alport Syndrome.

Laryngoscope Investig Otolaryngol 2018 Aug 9;3(4):311-314. Epub 2018 Aug 9.

Department of Otolaryngology Massachusetts Eye and Ear Infirmary Boston Massachusetts U.S.A.

Objective: To describe the histopathologic findings within the human cochlea in X-linked Alport syndrome.

Study Design: Histopathologic analysis of cellular elements within the human cochlea by light microscopy.

Materials And Methods: A right and a left cochleae of a man with genetically confirmed X-linked Alport syndrome was studied post-mortem. Read More

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http://dx.doi.org/10.1002/lio2.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119774PMC
August 2018
5 Reads

Systemic Activation of Activin A Signaling Causes Chronic Kidney Disease-Mineral Bone Disorder.

Int J Mol Sci 2018 Aug 23;19(9). Epub 2018 Aug 23.

Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid, St. Louis, MO 63110, USA.

The high cardiovascular mortality associated with chronic kidney disease (CKD) is caused in part by the CKD-mineral bone disorder (CKD-MBD) syndrome. The CKD-MBD consists of skeletal, vascular and cardiac pathology caused by metabolic derangements produced by kidney disease. The prevalence of osteopenia/osteoporosis resulting from the skeletal component of the CKD-MBD, renal osteodystrophy (ROD), in patients with CKD exceeds that of the general population and is a major public health concern. Read More

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http://dx.doi.org/10.3390/ijms19092490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163495PMC
August 2018
16 Reads

A review of clinical characteristics and genetic backgrounds in Alport syndrome.

Clin Exp Nephrol 2019 Feb 20;23(2):158-168. Epub 2018 Aug 20.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Read More

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http://dx.doi.org/10.1007/s10157-018-1629-4DOI Listing
February 2019
29 Reads

Anterior lenticonus associated with Alport syndrome.

Indian J Ophthalmol 2018 09;66(9):1330-1331

Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.4103/ijo.IJO_400_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113840PMC
September 2018
2 Reads
0.930 Impact Factor

It is an Alport syndrome, not a simple hypertensive retinopathy.

Indian J Ophthalmol 2018 09;66(9):1319-1321

Department of Retina, Anand Eye Institute, Hyderabad, Telangana, India.

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http://www.ijo.in/text.asp?2018/66/9/1319/239361
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http://dx.doi.org/10.4103/ijo.IJO_426_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113804PMC
September 2018
14 Reads

Induced Pluripotent Stem Cell-Derived Podocyte-Like Cells as Models for Assessing Mechanisms Underlying Heritable Disease Phenotype: Initial Studies Using Two Alport Syndrome Patient Lines Indicate Impaired Potassium Channel Activity.

J Pharmacol Exp Ther 2018 Nov 13;367(2):335-347. Epub 2018 Aug 13.

Monash Institute of Pharmaceutical Sciences (J.M.H., J.N.S., T.H.V., I.P.L.A., J.K.H., W.-L.L., K.L.) and Department of Anatomy and Developmental Biology (S.S., C.L.F., S.D.R.), Monash University, Victoria, Australia; and Department of Medicine, Royal Melbourne Hospital, Victoria, Australia (J.S.).

Renal podocyte survival depends upon the dynamic regulation of a complex cell architecture that links the glomerular basement membrane to integrins, ion channels, and receptors. Alport syndrome is a heritable chronic kidney disease where mutations in 3, 4, or 5 collagen genes promote podocyte death. In rodent models of renal failure, activation of the calcium-sensing receptor (CaSR) can protect podocytes from stress-related death. Read More

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http://dx.doi.org/10.1124/jpet.118.250142DOI Listing
November 2018
30 Reads

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.

Pediatr Nephrol 2018 Aug 11. Epub 2018 Aug 11.

Division of Nephrology, Department of Internal Medicine, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8126, St. Louis, MO, 63110, USA.

The advent of next-generation sequencing (NGS) in recent years has led to a rapid discovery of novel or rare genetic variants in human kidney cell genes, which is transforming the risk assessment, diagnosis, and treatment of kidney disease. Mutations may lead to protein misfolding, disruption of protein trafficking, and endoplasmic reticulum (ER) retention. An imbalance between the load of misfolded proteins and the folding capacity of the ER causes ER stress and unfolded protein response. Read More

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http://dx.doi.org/10.1007/s00467-018-4031-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370526PMC
August 2018
1 Read

Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.

J Nephrol 2019 Feb 30;32(1):155-159. Epub 2018 Jul 30.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo, Hokkaido, 060-8638, Japan.

Approximately 80% of patients with Alport syndrome have X-linked Alport syndrome (XLAS), which is caused by mutations in the type IV collagen alpha 5 gene (COL4A5). In patients with XLAS, approximately 10-15% of COL4A5 mutations occur as spontaneous events. Here, we describe maternal germline mosaicism in a family of XLAS patients. Read More

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http://dx.doi.org/10.1007/s40620-018-0518-yDOI Listing
February 2019
2 Reads