Alport basement membrane. Medical search. Frequent questions

Mutations that affect the GBM's collagen α3α4α5(IV) components cause Alport syndrome (kidney disease with variable ear and eye defects) and its variants, including thin basement membrane nephropathy. (wustl.edu)
Some carriers are unaffected, while others develop a less severe condition called thin basement membrane nephropathy, which is characterized by hematuria. (medlineplus.gov)
It remains unclear why some individuals with one variant in the COL4A3 or COL4A4 gene have progressive kidney disease (autosomal dominant Alport syndrome) and others have only hematuria (thin basement membrane nephropathy). (medlineplus.gov)
Thin basement membrane nephropathy biopsy results demonstrate cystic dilatation of the Bowman's capsule and atrophy of the glomerular tuft, with a thin glomerular basement membrane. (medscape.com)
This congenital disease was described in 1927 by Dr. Cecil A. Alport thanks to a family in which men affected by deafness and progressive nephropathy were present for several generations. (wikilectures.eu)
Thin-glomerular-basement-membrane nephropathy: is it a benign cause of isolated hematuria? (geometry.net)
Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). (ucy.ac.cy)

Alport syndrome is caused by an inherited defect in type IV collagen-a structural material that is needed for the normal function of different parts of the body. (wikipedia.org)
Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc. (wikipedia.org)
Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, three of six human genes involved in basement membrane (type IV) collagen biosynthesis. (wikipedia.org)
Mutations in any of these genes prevent the proper production or assembly of the specialised type IV collagen '345' network which is an important structural component of basement membranes in the kidney, inner ear, and eye. (wikipedia.org)
Type IV collagen '112' type is found in both vertebrates and invertebrates and is the major isoform in most human basement membranes. (wikipedia.org)
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. (bmj.com)
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3 , COL4A4 , and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands. (msdmanuals.com)
X-linked Alport syndrome is largely caused by mutations in COL4A5 which codes for a component of type IV collagen. (rbht.nhs.uk)
Type IV collagen is the major structural component of basement membranes found in the glomerulus, cochlea, cornea, and retina. (entokey.com)
Many different mutations involving disruption of tertiary and quaternary structure of type IV collagen cause Alport syndrome. (entokey.com)
The gene product is a component of type IV collagen which is found in basement membranes throughout the body, including blood vessels. (arizona.edu)
The principal component of basement membrane is type IV collagen, which acts as a support structure and is composed of building blocks that are linked end-to-end. (medscape.com)
Alport syndrome is a hereditary progressive chronic kidney disease caused by mutations in type IV collagen genes COL4A3/4/5. (omicsdi.org)
Alport syndrome is an inherited disease characterized by a progressive loss of kidney function, hearing loss and eye abnormalities, and is caused by genetic mutations affecting the type IV collagen family of proteins in basement membranes. (wustl.edu)
Type IV collagen alpha1-alpha6 chains have important roles in the assembly of basement membranes and are implicated in the pathogenesis of Goodpasture syndrome, an autoimmune disorder, and Alport syndrome, a hereditary renal disease. (ox.ac.uk)
Type IV collagen is the major component of basement membranes and provides structural support. (rheumaknowledgy.com)
The syndrome is caused by genetic mutations that affect expression and/or function of the type IV collagen family protein isoforms COL4A3, COL4A4, and COL4A5, which help form the glomerular basement membranes. (wustl.edu)

In most patients, a renal biopsy either is normal or reveals minor changes, such as thin glomerular basement membranes, focal glomerulonephritis, or mild mesangial hypercellularity. (medscape.com)
Electron microscopy is crucial in these cases to examine for abnormalities of the glomerular basement membranes (Adam et al, 2013). (arkanalabs.com)
Ultrastructural findings that are most characteristic of Alport syndrome are multilamination and thinning of the glomerular basement membranes. (arkanalabs.com)

Variants (also called mutations) in the COL4A3 , COL4A4 , and COL4A5 genes cause Alport syndrome. (medlineplus.gov)
4, 5 Until recently, the only known contiguous gene syndrome involving the COL4A5 gene was Alport syndrome and diffuse leiomyomatosis (ATS-DL, OMIM 308940), 6- 9 in which the deletion extends towards the centromere to include the first two exons of the adjacent COL4A6 gene. (bmj.com)
Homozygote Mutationen in dem Typ IV Kollagen (COL4A3, COL4A4 und COL4A5) führen zum Alport-Syndrom. (uni-goettingen.de)
X-linked Alport syndrome (XLAS) is caused by mutations in the COL4A5 gene and is the most common form of Alport syndrome. (omicsdi.org)
Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5. (omicsdi.org)
X-linked Alport syndrome (XLAS) is a progressive kidney disease caused by genetic abnormalities of COL4A5. (omicsdi.org)
BACKGROUND:Alport syndrome is an inherited renal disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. (omicsdi.org)
Alport syndrome (AS) is a hereditary disease that leads to kidney failure and is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes that lead to the absence of collagen α3α4α5 (IV) networks in the mature kidney glomerular basement membrane. (stemcellcharter.org)
Alport syndrome is a genetic disorder characterized by kidney disease with high levels of proteinuria, hearing loss and eye abnormalities caused by mutations in the genes (COL4A3, COL4A4, and COL4A5) needed for production of type 4 collagen. (wrbl.com)

This includes X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), and autosomal dominant Alport syndrome (ADAS). (wikipedia.org)
Alport syndrome can be transmitted as an X-linked, autosomal recessive , or autosomal dominant disorder. (nih.gov)
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. (cdc.gov)

in most families, thickening and thinning of the glomerular and tubular basement membranes occur, with multilamination of the lamina densa in a focal or local distribution (basket-weave pattern). (msdmanuals.com)

No specific or efficient treatment exists for Alport syndrome, an X-linked hereditary disease caused by mutations in collagen type IV, a crucial component of the glomerular basement membrane. (hindawi.com)
Mutations in the COL4A4 gene in thin basement membrane disease. (cdc.gov)
Alport syndrome is a type of hereditary nephritis due to mutations in the alpha 3, alpha 4, or alpha 5 chains of collagen type IV. (arkanalabs.com)
Coexisting mutations in either two of the three genes in Alport patients have been reported recently. (omicsdi.org)
However, the effect of heterozygous mutations in COL4A3 or COL4A4 genes in X-linked Alport syndrome (XLAS) patients is unclear. (omicsdi.org)
The results provide a rationale for defining the epitope that binds Goodpasture autoantibodies and a framework for understanding how certain NC1 mutations may lead to Alport syndrome. (ox.ac.uk)
Alport syndrome is a rare genetic kidney disorder caused by mutations in COL4A3/4/5 genes, characterized by podocyte injury and impaired kidney filter function leading to proteinuria. (wrbl.com)
Based on the results from the Phase 2 trial, Eloxx intends to gain alignment with the FDA on the design of pivotal trial for ELX-02 for the treatment of Alport syndrome with nonsense mutations and the potential for seeking Breakthrough Therapy Designation. (wrbl.com)
Eloxx recently submitted an Investigational New Drug application (IND) to the FDA for ELX-02 for the treatment of Alport syndrome with nonsense mutations. (wrbl.com)
Approximately 6% to 7% of Alport syndrome patients, or approximately 9,400 to 12,750 individuals, are estimated to have nonsense mutations. (wrbl.com)

Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. (wikipedia.org)
Alport syndrome is a genetic disease characterized by glomerulonephritis, sensorineural hearing loss, and ocular changes. (entokey.com)
Goodpasture disease is a term used to describe glomerulonephritis, with or without pulmonary hemorrhage, and the presence of circulating anti-glomerular basement membrane (anti-GBM) antibodies. (medscape.com)
In this special issue, Researchers and Specialist Registrars of University of Catania, Catanzaro and Messina (ITALY) focused on nephron-urological abnormalities in children, ranging from glomerular (nephrosic and Alport syndrome, chronic glomerulonephritis) and urologic diseases (multicystic dysplastic kidney, obstructive pathologies and stones). (biolifesas.org)
Goodpasture syndrome is an autoimmune disorder characterized by pulmonary hemorrhage and rapidly progressive glomerulonephritis in association with antibodies to alveolar and glomerular basement membrane (GBM). (rheumaknowledgy.com)

In approximately 15 percent of cases, Alport syndrome is caused by variants in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern . (medlineplus.gov)
People with this form of Alport syndrome have one variant in either the COL4A3 or COL4A4 gene in each cell. (medlineplus.gov)
Im Vergleich zur homozygoten Alport-Kontrollgruppe (COL4A3-Knockout) weisen die unterschiedlichen Genotypen jedoch oft signifikant bessere bzw. (uni-goettingen.de)
I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases. (bvsalud.org)
The so-called thin basal membrane syndrome is called a milder form of X-linked Alport syndrome, a mutation in the COL4A3 or COL4A4 gene. (wikilectures.eu)
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome. (cdc.gov)
Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. (omicsdi.org)
RESULTS:Patients with XLAS who also had heterozygous pathogenic COL4A3 or COL4A4 variants accounted for 1% of Alport syndrome. (omicsdi.org)
He led a study that helps explain the variability of the onset, symptoms, progression and severity often seen in patients with Alport Syndrome ( J Am Soc Nephrol , 2018), and determined that an induced expression of Col4a3 in glomerular endothelial cells does not rescue Alport syndrome ( Am J Physiol Renal Physiol , 2019 ). (wustl.edu)

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with the X-linked form of Alport syndrome than in affected females. (medlineplus.gov)

Purpose We report a novel gene mutation in a female patient with Alport syndrome who was planning to undergo assisted reproduction to achieve pregnancy. (researchsquare.com)
Methods A retrospective analysis of clinical and genetic data of a patient with Alport syndrome was performed. (researchsquare.com)
Generation of induced pluripotent stem cells from renal tubular cells of a patient with Alport syndrome. (stemcellcharter.org)

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. (medlineplus.gov)
Alport Syndrome is a relatively common genetic disorder affecting around 1 in 5,000-10,000 children. (wikipedia.org)
A review of clinical characteristics and genetic backgrounds in Alport syndrome . (nih.gov)
In-depth clinical and genetic data of 60/62 children who participated in the EARLY PRO-TECT Alport trial were analyzed. (uni-koeln.de)
Conclusion Genetic testing prior to pregnancy is recommended in Alport syndrome patients or family members prior to pregnancy to determine the specific location of the gene mutation. (researchsquare.com)
We hypothesized that this patient's kidney disease was within the spectrum of Alport syndrome.We used histologic, genetic, and biochemical approaches to investigate the mechanisms of kidney disease. (stanford.edu)
Note: Until recently, Fechtner-Epstein syndrome (hereditary nephritis, deafness, cataracts, and May-Hegglin anomalies ) was also considered a genetic variant of Alport syndrome. (wikilectures.eu)
Kidney biopsy findings can be suggestive, but not completely diagnostic, of Alport syndrome, which is confirmed by genetic testing by next-generation sequencing. (arkanalabs.com)
Genetic testing can resolve diagnostic confusion in Alport syndrome. (arkanalabs.com)
Alport Syndrome is a genetic condition that mainly affects the kidneys and hearing. (ukkidney.org)
Because Alport Syndrome is genetic, it can be helpful to test for abnormalities in the genes known to cause it. (ukkidney.org)
WATERTOWN, Mass., Sept. 18, 2023 (GLOBE NEWSWIRE) -- Eloxx Pharmaceuticals, Inc. (NASDAQ: ELOX), a leader in ribosomal RNA-targeted genetic therapies for rare diseases, today reported additional independent confirmation on the positive TEM assessment results from its proof-of-concept Phase 2 open-label clinical trial ( NCT05448755 ) of ELX-02 for the treatment of Alport syndrome after eight weeks of treatment. (wrbl.com)

These data suggest that the COL4A4-G394S variant is pathogenic and causes an atypical mild form of autosomal recessive Alport syndrome. (stanford.edu)

Early initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. (uni-koeln.de)
Patients with Alport syndrome present with hematuria and progressive renal failure, and males are disproportionately affected. (arkanalabs.com)
Patients with Alport Syndrome usually respond well to transplantation and the condition does not recur in the new kidney. (ukkidney.org)
We look forward to initiating a pivotal trial as we believe ELX-02 has the potential to make a meaningful impact on the lives of patients with Alport syndrome. (wrbl.com)
These patients have significantly worse clinical outcomes than other patients with Alport syndrome and have no disease modifying treatment options. (wrbl.com)

In late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear . (medlineplus.gov)
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. (nih.gov)
Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies [1] . (rbht.nhs.uk)

The present case illustrates the reduction rate of urinary podocyte loss and proteinuria after amiloride administration and suggests the molecular pathways involved in Alport renal disease. (hindawi.com)
Introduction: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane. (nuigalway.ie)

Missense variants in COL4A genes are often found in patients with an Alport syndrome-like presentation, but their pathogenicity is not always clear. (stanford.edu)

Abnormal α-chain structures destroy the integrity of the basement membrane, which initially leads to hematuria and later develops into moderate-to-severe proteinuria, progressive renal failure, high-pitched sensorineural hearing impairment, and eye disease. (researchsquare.com)
Alport syndrome is a genetically heterogeneous disorder characterized by nephritic syndrome (ie, hematuria, proteinuria, hypertension, eventual renal insufficiency) often with sensorineural deafness and, less commonly, ophthalmologic symptoms. (msdmanuals.com)
We encountered a woman with microscopic hematuria and proteinuria at 33 years of age with a diagnosis of thin basement membrane disease who was approaching end stage kidney disease at 59 years of age. (stanford.edu)

Depending on where the mutation is located in the genome, Alport syndrome can present itself in many forms. (wikipedia.org)
The mutation causes the formation of defective chains, which are subsequently degraded, the α 3,4,5 complex is not formed in the basement membrane. (wikilectures.eu)

We present a young male patient with a family history of kidney biopsy-proven Alport disease. (hindawi.com)
Family history consisted of a mother-related uncle on dialysis with biopsy-proven Alport disease, another mother-related cousin with kidney involvement, and a grandfather who died due to sudden death at the age of 42. (hindawi.com)
Renal biopsy revealed that the basement membrane was of varying thickness, with a thickened dense layer, some of which was tear-like and arachnoid. (researchsquare.com)
Immunohistochemical examination of the basement membrane in renal or skin biopsy . (wikilectures.eu)
The diagnosis of Goodpasture syndrome may be secured by demonstrating linear antibody staining of the basement membrane of renal or pulmonary biopsy specimens. (rheumaknowledgy.com)

Funk, SD , Lin, MH & Miner, JH 2018, ' Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane ', Matrix Biology , vol. 71-72, pp. 250-261. (wustl.edu)
When he joined the Miner laboratory, Funk began studying diseases of the glomerular basement membrane (GMB), in particular Alport and Pierson syndromes. (wustl.edu)

Foot processes showed segmented fusion and the basement membrane was torn under electron microscopy. (researchsquare.com)
In Alport syndrome , the glomerular basement membrane is irregularly thickened, and the central lamina densa is split and splintered into a heterogeneous network of strands, which enclose electron-lucent areas that may contain microgranulations. (medscape.com)
Electron microscopy, however, reveals a characteristic thickening of the glomerular basement membrane that is directly proportional to the patient's age and severity of proteinuria. (entokey.com)
Alterations in basement membrane morphology can be seen on electron microscopy in many areas of the body but that of the glomeruli is normal even though the filtration rate is decreased. (arizona.edu)
By standard transmission electron microscopy, the Alport GBM is initially thinner than normal. (ankihub.net)
The above painting depicts electron microscopy of a case of Alport syndrome. (arkanalabs.com)
Lack of collagen IV ?5 chain staining and "basket-weave" by electron microscopy (EM) in glomerular basement membrane (GBM) are its typical pathology. (omicsdi.org)

Defects of the GBM, such as loss of type IV collagens (a3, a4, or a5) leading to Alport syndrome or loss of Lamininß2 leading to Pierson syndrome, lead to increased leakage of blood proteins into renal epithelial compartments, termed proteinuria. (wustl.edu)

citation needed] Macular abnormalities such as incomplete foveal hypoplasia or staircase foveopathy are common in Alport syndrome. (wikipedia.org)
Alport syndrome is an inherited disease characterized by progressive loss of kidney function, hearing loss, and eye abnormalities. (wustl.edu)

Ocular manifestations of Alport syndrome: A hereditary disorder of basement membranes. (entokey.com)

The antiglomerular basement membrane antibodies were strongly positive. (medscape.com)
Antiglomerular basement membrane antibody disease. (rheumaknowledgy.com)
95% of patients with Goodpasture syndrome (see Antiglomerular Basement Membrane (GBM) Antibody ). (rheumaknowledgy.com)

Microhematuria and subsequently proteinuria are hallmarks of kidney involvement, which are due to primary basement membrane alterations that mainly cause endothelial thrombosis and podocyte contraction and ulterior irreversible detachment. (hindawi.com)
In 1998, we described a new Xq22.3 contiguous gene syndrome which we named AMME (OMIM 300194) because of the distinctive features observed in affected males: Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E). 10 After the original publication, clinical re-evaluation of the family showed alterations of cardiac rhythm and morphology on echocardiography. (bmj.com)

By immunofluorescence, we investigated collagen IV chain composition of the glomerular basement membrane (GBM). (stanford.edu)
Collagen IV α345 dysfunction in glomerular basement membrane diseases. (bvsalud.org)

Classical Alport syndrome is characterized by impaired renal function (manifested as nephritic or nephrotic syndrome ). (wikilectures.eu)

This binding of antibodies can be visualized as the linear deposition of immunoglobulin along the glomerular basement membrane and, less commonly, the alveolar basement membranes, by direct immunofluorescent techniques. (medscape.com)

Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). (medlineplus.gov)
Finally, podocyturia rather than proteinuria should be considered as an earlier biomarker of kidney involvement and disease progression in Alport disease. (hindawi.com)

A family history that is suggestive of Alport syndrome, collagen vascular diseases, urolithiasis, or polycystic kidney disease is important. (medscape.com)

These have no effect on vision but can help in the diagnosis of Alport Syndrome. (ukkidney.org)
Diagnosis is made on the basis of the presence of a subepidermal vesicle on routine histologic examination and of linear deposition of the third component of complement along the basement membrane zone of perilesional skin. (medscape.com)

Anti-GBM disease is an autoimmune disorder characterized by autoantibodies directed against the glomerular/alveolar basement membrane. (medscape.com)

The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. (wikipedia.org)

Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people with Alport syndrome. (medlineplus.gov)

The autoantibodies bind to their reactive epitopes in the basement membranes and activate the complement cascade, resulting in tissue injury. (medscape.com)

Here are some ultrastructural images of Alport syndrome from a patient's case. (arkanalabs.com)

People with Alport syndrome experience progressive loss of kidney function. (medlineplus.gov)

Collagen type IV molecules assemble to form a sheet-like network which is involved in maintaining the structural integrity of basement membranes. (lookformedical.com)

We suggest the potential roles certain integrins, the urokinase plasminogen activator (uPA), its receptor (uPAR), and plasmin may play in the pathogenesis of Alport kidney disease. (hindawi.com)

A familial tendency has been reported among patients with map dot fingerprint epithelial basement membrane dystrophy (EBMD). (entokey.com)

Most men with Alport Syndrome develop kidney failure in their twenties or thirties. (ukkidney.org)

Abnormal basement membrane, abnormal or deficient hemidesmosomes, defective anchoring system, and accumulation of collagenous debris between and beneath epithelial cells result in easy slippage or tearing of the basal cells from the underlying connective tissue. (entokey.com)

Anatomy61

Organisms9

Diseases25

Chemicals and Drugs82

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Phenomena and Processes47

Disciplines and Occupations2

Technology, Industry, Agriculture4

Information Science3

Health Care1

Nephropathy7

Type IV colla17

Glomerular basement membranes3

COL4A59

Autosomal dominant3

Thinning of the glomerular1

Mutations10

Glomerulonephritis5

COL4A39

Form of Alport syndrome1

Patient with Alport syndrome3

Genetic12

COL4A41

Patients with Alport5

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Renal disease2

Genes1

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Biopsy5

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Electron7

Pierson1

Abnormalities2

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Alterations2

Collagen IV2

Nephritic1

Antibodies1

Proteinuria2

Suggestive1

Diagnosis2

Alveolar1

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Kidneys1

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