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Last updated: 3/25/2024
Years published: 1988, 1989, 2004, 2007, 2014, 2017, 2020, 2024
NORD gratefully acknowledges Clifford Kashtan, MD, FASN, Professor of Pediatrics, Emeritus, Division of Pediatric Nephrology, Department of Pediatrics, University of Minnesota Medical School, for assistance in the preparation of this report.
Summary
Alport syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the inner ear and the eye. There are three genetic types. X-linked Alport syndrome (XLAS) is the most common; in these families affected males typically have more severe disease than affected females. In autosomal recessive Alport syndrome (ARAS) the severity of disease in affected males and females is similar. There is also an autosomal dominant form (ADAS) that affects males and females with equal severity. The hallmark of the disease is the presence of blood in the urine (hematuria) early in life, with progressive decline in kidney function (kidney insufficiency) that ultimately results in kidney failure, especially in affected males. About 50% of untreated males with XLAS develop kidney failure by age 25, increasing to 90% by age 40 and nearly 100% by age 60. Females with XLAS usually do not develop kidney insufficiency until later in life. They may not develop kidney insufficiency or failure at all, but the risk increases as they grow older. Both males and females with ARAS develop kidney failure, often in the teen-age years or early adulthood. ADAS tends to be a slowly progressive disorder in which renal insufficiency does not develop until well into adulthood. Individuals with Alport syndrome can also develop progressive hearing loss of varying severity and abnormalities of the eyes that usually do not result in impaired vision. XLAS is caused by variants in the COL4A5 gene. ARAS is caused by variants in both copies of either the COL4A3 or the COL4A4 gene. ADAS is caused by variants in one copy of the COL4A3 or COL4A4 gene. Alport syndrome is treated symptomatically, and certain medications can potentially delay the progression of kidney disease and the onset of kidney failure. Ultimately, in many patients, a kidney transplant is required.
Introduction
The disease we now know as Alport syndrome was first described in the British medical literature in the early years of the 20th century. In 1927 Dr. Cecil Alport published a paper describing the association of kidney disease and deafness in affected individuals. Many additional cases were described in the literature and the disorder was named after Dr. Alport in 1961. Alport syndrome is often discussed with a related disorder known as thin basement membrane nephropathy (TBMN), in which the predominant pathologic abnormality is thinning of glomerular basement membranes. Many people diagnosed with TBMN have variants in the same genes that cause Alport syndrome. People diagnosed with TBMN have persistent microscopic blood in the urine (hematuria) in a similar pattern as seen in individuals with Alport syndrome. Patients given a diagnosis of TBMN are less likely to have symptoms outside of the kidney (extrarenal abnormalities) than patients with Alport syndrome, and additional kidney findings such as protein in the urine (proteinuria), high blood pressure (hypertension), kidney insufficiency and kidney failure are less common than in Alport syndrome. Patients who have hematuria and variants in the COL4A3, COL4A4 or COL4A5 genes should be given a diagnosis of Alport syndrome, while those with thin glomerular basement membranes but no variants in these genes should be diagnosed with hematuria with thin glomerular basement membranes. Differentiating Alport syndrome and TBMN can be challenging, especially in young patients and in women. For more information on this topic see the Related Disorders section of this report.
The onset, symptoms, progression and severity of Alport syndrome can vary greatly from one person to another due, in part, to the specific subtype and gene variant present. Some individuals may have a mild, slowly progressive form of the disorder, while others have earlier onset of severe complications.
The first sign of kidney disease is blood in the urine (hematuria). Hematuria is usually not visible to the naked eye but can be seen when the urine is examined under a microscope. This is referred to as microscopic hematuria. Microscopic hematuria can also be detected by urinary dipstick testing. Sometimes, blood may be visible in the urine (i.e. the urine may be brown, pink, or red) for a few days, usually when an affected individual has a cold or the flu. This is referred to as an episode of gross hematuria. Males with XLAS usually exhibit persistent microscopic hematuria early in life. About 95% of females with XLAS syndrome have microscopic hematuria, but it may come and go (intermittent). Both males and females with ARAS develop hematuria during childhood. Males and females with ADAS also have hematuria.
With time many affected individuals exhibit elevated levels of albumin and other proteins in the urine (albuminuria and proteinuria), which are indications that kidney disease is progressing. The next stage in progression is gradual loss of kidney function, frequently associated with high blood pressure (hypertension), until, ultimately, the kidneys fail to work (end stage kidney disease or ESKD). The kidneys have several functions including filtering and excreting waste products from the blood and body, synthesizing certain hormones and helping maintain the balance of vital minerals in the body such as potassium, sodium, chloride and other electrolytes. A variety of symptoms can be associated with ESKD including weakness and fatigue, diminished appetite, poor digestion, swelling of feet, ankles and lower legs(edema), excessive thirst and frequent urination.
As noted above, the rate of progression of kidney disease varies greatly. Without treatment, many males with XLAS will develop ESKD by their teen-age years or early adulthood, although some will not develop kidney failure until their 40s, 50s or even 60s. Most females with XLAS do not develop kidney insufficiency until later in life. Kidney failure is less common than in males with XLAS but still a significant risk โ about 15% by age 45 and 20-30% by age 60. In untreated individuals with ARAS, ESKD typically develops by about age 30 or before. ESKD is usually delayed until 50-70 years of age in people with ADAS, and many people with ADAS will not progress to ESKD.
Progressive hearing loss (sensorineural deafness) occurs frequently in people with Alport syndrome. Sensorineural deafness results from impaired transmission of sound input from the inner ears (cochleae) to the brain via the auditory nerves. The hearing loss is bilateral, meaning it affects both ears. Diminished hearing is usually evident by late childhood in males with XLAS although it may be mild or subtle. In males with XLAS the frequency of hearing loss is approximately 50% by age 15, 75% by age 20 and 90% by age 40. Hearing loss is progressive and may require hearing aids as early as the teen-age years. Hearing aids are typically very helpful in people with deafness caused by Alport syndrome.
The onset, progression and severity of hearing loss in Alport syndrome varies greatly due to, in part, the specific genetic variant present in each individual. Hearing loss in females with XLAS occurs less frequently than in males and usually occurs later in life, although a smaller percentage of females will develop hearing loss in their teen-age years. Both males and females with ARAS develop hearing loss, usually during late childhood or early adolescence. Individuals with ADAS may develop hearing loss, although this occurs much later during life, usually as older adults.
Individuals with Alport syndrome may also develop abnormalities in several parts of the eyes including the lens, retina and cornea. Eye abnormalities in XLAS and ARAS are very similar in presentation. Eye abnormalities are uncommon in ADAS.
Anterior lenticonus is a condition in which the lenses of the eyes are shaped abnormally, specifically the lens bulges forward into the space (anterior chamber) behind the cornea. Anterior lenticonus can result in the need for glasses and sometimes leads to cataract formation. Anterior lenticonus occurs in about 20% of males with XLAS and often becomes apparent by late adolescence or early adulthood.
The retina, which is the nerve-rich, light-sensitive membrane that lines the back of the eyes, may also be affected, usually by pigmentary consisting of yellow or white flecks superficially located on the retina. These changes do not appear to affect vision. Rare patients develop progressive thinning of the retina that can result in holes (macular holes) that can impair vision.
The cornea, which is the clear (transparent) outer layer of the eyes, may also be affected, although the specific abnormalities can vary. The effects on the cornea may be slowly progressive. Recurrent corneal erosions in which the outermost layer of the cornea (epithelium) does not stick (adhere) to the eye properly may occur. Recurrent corneal erosions can cause discomfort or severe eye pain, an abnormal sensitivity to light (photophobia), blurred vision and the sensation of a foreign body (such as dirt or an eyelash) in the eye. Posterior polymorphous corneal dystrophy may also occur. Effects on the cornea may be slowly progressive. Both eyes may be affected; one eye can be more severely affected than the other. In severe cases, posterior polymorphous corneal dystrophy can cause swelling (edema) of a specific layer of the cornea, photophobia, the sensation of a foreign body (such as dirt or an eyelash) in the eye and decreased vision.
Additional symptoms can occur in certain individuals with Alport syndrome. In a small number of males, aneurysms of the chest or abdominal portions of the aorta, the main artery that carries blood away from the heart, have occurred. Aneurysms occur when the walls of blood vessels balloon or bulge outward, potentially rupturing causing bleeding within the body.
Alport syndrome results from disease-causing variants in the DNA sequences of specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a disease-causing variant in the DNA sequence of genes of a gene occurs, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.
X-linked Alport syndrome is caused by disease-causing variants in the COL4A5 gene, which resides on the X chromosome. X-linked genetic disorders are conditions caused by a disease-causing gene variant on the X chromosome and mostly affect males. Females who have a disease-causing gene variant on one of their X chromosomes are carriers for that disorder. Carrier females usually do not have symptoms because females have two X chromosomes and only one carries the gene variant. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a disease-causing gene variant, he will develop the disease.
Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.
If a male with an X-linked disorder can reproduce, he will pass the gene variant to all his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male children.
Autosomal recessive Alport syndrome is caused by disease-causing variants in both copies of either the COL4A3 or the COL4A4 gene. Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
Autosomal dominant Alport syndrome is caused by disease-causing variants in one copy of either the COL4A3 gene or the COL4A4 gene. Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Researchers have determined that the progression and severity of Alport syndrome tends to vary based upon the specific variant present in a gene as well as the specific location of the variant in the gene. This is known as genotype-phenotype correlation and allows physicians to predict individuals who are at risk of early-onset kidney failure or more likely to develop extra-renal abnormalities. More than 1,000 different disease-causing variants have been identified in XLAS.
Some individuals with Alport syndrome have loss of genetic material (microdeletion) and loss of function of several adjacent genes (contiguous gene syndrome) on the long arm of the X chromosome, which affects both the COL4A5 and COL4A6 genes. In addition to the classic symptoms of Alport syndrome, affected individuals can develop leiomyomatosis (tumors of smooth muscle that are not malignant). This is known as Alport syndrome with diffuse leiomyomatosis. Another disorder involving a contiguous gene syndrome associated with X-linked Alport syndrome is the AMME complex. For more information on these disorders, see the Related Disorders section below.
The COL4A3, COL4A4, and COL4A5 genes create (encode) proteins known as alpha chains of collagen IV, a protein family that serves as the major structural component of basement membranes, specifically those of the kidneys, ears and eyes. Basement membranes are delicate protein matrices that separate the thin outer layer of tissue (epithelium) of a structure from the underlying tissue. The basement membrane anchors the epithelium to the loose connective tissue beneath it and also serves as a selective barrier, allowing the passage of water as well as certain proteins and other molecules. The COL4A3 gene encodes the collagen IV alpha-3 chain. The COL4A4 gene encodes the collagen IV alpha-4 chain. The COL4A5 gene encodes the collagen IV alpha-5 chain. Disease-causing variants in these genes impair the production of functional copies of the corresponding proteins, leading in turn to the improper health, maintenance and function of collagen IV. The negative effects of collagen IV abnormalities result in progressive damage to the basement membranes and ultimately the signs and symptoms of Alport syndrome.
For example, in the kidneys the glomerular basement membrane (GBM) is a vital component of the walls of the small blood vessels (capillaries) that make up glomeruli, the filtering units of the kidneys. Blood flows through very small capillaries in each glomerulus where it is filtered through the GBM to form urine. Collagen IV acts to strengthen and hold the GBM together. In individuals with Alport syndrome the GBM is initially thin and can develop microscopic ruptures that allow blood cells to leak into the urine, causing hematuria. The cells of the glomeruli respond to the abnormal collagen IV by laying down other proteins that lead to thickening of the GBM while impairing the GBMโs ability to keep protein out of the urine. This results in proteinuria. Further damage such as the formation of scar tissue (fibrosis) in the kidneys may also occur. Damage to the GBM and the kidneys is progressive, causing worsening kidney function and, in many cases, eventual kidney failure.
Alport syndrome is estimated to affect approximately 1 in 5,000-10,000 people in the general population in the United States, which means that approximately 30,000-60,000 people in the United States have the disorder. However, recent population studies suggest that disease-causing variants in the COL4A3, COL4A4 and COL4A5 genes may be more prevalent than previously realized (Groopman et al, 2019; Gibson et al, 2021) Alport syndrome is estimated to account for 3% of children with chronic kidney disease and 0.2% of adults with end-stage renal disease in the United States. In XLAS, males are affected more severely than females. In the autosomal forms of Alport syndrome, males and females are affected with equal severity.
A diagnosis of Alport syndrome is suspected based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. The likelihood of diagnosis increases in individuals with a family history of Alport syndrome, kidney failure without known cause, early hearing loss or hematuria. A variety of specialized tests can help to confirm a suspected diagnosis.
Clinical Testing and Workup
The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. While tissue studies (kidney or skin biopsy) are very useful tools in the evaluation of patients with hematuria, early genetic testing is becoming increasingly important. When clinical information and family history strongly suggest a diagnosis of Alport syndrome, genetic testing, using the techniques of next generation or whole exome sequencing, can confirm the diagnosis, establish the inheritance pattern and provide useful prognostic information. Genetic testing for Alport syndrome is offered by several commercial laboratories as well as some hospital laboratories, but there is wide variation in insurance coverage.
When genetic testing is unavailable or inaccessible, studies of tissue specimens (biopsies) can be performed. A suspected diagnosis of XLAS may be confirmed by skin biopsy. A specific test known as immunostaining is performed on the sample. With immunostaining, an antibody that reacts against collagen type IV alpha-5 chain proteins is added to the skin sample. This allows physicians to determine whether a specific protein is present and in what quantity. Normally, alpha-5 chains are found in skin samples, but in males with XLAS they are frequently absent. Alpha-3 and alpha-4 chains are not present in the skin and, therefore, skin biopsies cannot be used to diagnose ARAS or ADAS.
A kidney biopsy may also be performed. A kidney biopsy can reveal characteristic changes to kidney tissue including abnormalities of the glomerular basement membrane (GBM) that can be detected by an electron microscope. Immunostaining can also be performed on a kidney biopsy sample. In addition to detecting alpha-5 chains, kidney samples can be assessed to determine whether type IV collagen alpha-3 or alpha-4 chains are present or absent.
Examination of urine samples (urinalysis) can reveal microscopic or gross amounts of blood (hematuria) in the urine. Hematuria may come and go (intermittent) in some patients, especially in females with XLAS or individuals with ADAS. If kidney disease has progressed, elevated levels of protein can also be detected in urine samples.
Individuals diagnosed with Alport syndrome should undergo hearing tests that determine a personโs audible range for tones and speech (audiometry) and a complete eye (ophthalmological) exam.
Treatment
The treatment of Alport syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, nephrologists, audiologists, ophthalmologists, and other healthcare professionals may need to plan an affected childโs treatment systematically and comprehensively.
Genetic counseling is recommended for affected individuals and their families. Psychosocial support for the entire family is essential as well.
Due to the rarity of Alport syndrome, treatment trials that have been tested on a large group of patients are lacking until recently. Clinical practice recommendations based on empiric findings have been published (Kashtan C., et al. 2020 and Savige J., et al. 2013) and discuss the treatment of Alport syndrome, including information on identifying and treating children with a high risk of developing early-onset kidney failure.
Medications known as angiotensin-converting enzyme (ACE) inhibitors have been used to treat individuals with Alport syndrome. Historical (retrospective) data strongly suggests that early treatment with ACE inhibitors can delay progression to end-stage renal disease in males and females with Alport syndrome. This off-label use may not be appropriate for all affected individuals and several factors must be considered before starting the therapy such as baseline kidney function, family history and specific symptoms that are present. ACE inhibitor therapy should be considered in all patients with Alport syndrome who have elevated levels of protein in the urine (overt proteinuria). These drugs are blood pressure medications that prevent (inhibit) an enzyme in the body from producing angiotensin II. Angiotensin II is a chemical that acts to narrow blood vessels and can raise blood pressure. ACE inhibitors in individuals with Alport syndrome have been shown to reduce proteinuria and slow the progression of kidney disease, delaying the onset of renal failure.
Some individuals do not respond to or cannot tolerate ACE inhibitors. These individuals may be treated with drugs known as angiotensin receptor blockers (ARBs). ARBs prevent angiotensin II from binding to the corresponding receptors on blood vessels.
ACE inhibitor therapy or ARB therapy is recommended in individuals with Alport syndrome who show overt proteinuria. These therapies may also be considered in affected individuals who have small amounts of albumin in the urine (microalbuminuria) but have not yet developed overt proteinuria. Albumin is a marker for kidney disease because the kidney may leak small amounts of albumin when damaged.
Although treatment may slow the progression of kidney disease in Alport syndrome, there is no cure for the disorder and no treatment has thus far been shown to completely stop kidney decline. The rate of progression of kidney decline in individuals with Alport syndrome is highly variable. In many affected individuals, kidney function eventually deteriorates to the point where dialysis or a kidney transplant is required.
Dialysis performs some of the functions of the kidney โ filtering waste products from the bloodstream, helping to control blood pressure, and helping to maintain proper levels of essential minerals such as potassium. Dialysis can be carried out using a machine that directly filters waste products from the bloodstream (hemodialysis) or by cycling a special dialysis fluid into and out of the abdomen (peritoneal dialysis). End-stage kidney disease is not reversible so individuals will require lifelong dialysis treatment or a kidney transplant.
A kidney transplant is the preferred treatment for individuals with Alport syndrome who have end-stage kidney disease and has generally been associated with excellent outcomes. Some individuals with Alport syndrome will require a kidney transplant in adolescence or the teen-age years, while others may not require a transplant until they are in their 40s, 50s or 60s. Most females with XLAS and some individuals with ADAS syndrome never require a transplant. If a kidney transplant is indicated, great care must be taken in selecting living related kidney donors to ensure that affected individuals are not chosen. Alport syndrome does not recur in kidney transplants. However, about 3% or less of transplanted Alport patients make antibodies to the normal collagen IV proteins in the transplanted kidney, causing severe inflammation of the transplant (anti-GBM nephritis).
Specific symptoms associated with Alport syndrome are treated by routine, accepted guidelines. For example, hearing aids are used to treat hearing loss when appropriate. Hearing aids are usually effective in people with Alport syndrome because they do not lose the ability to distinguish the various sounds of speech from each other another, as long as the sounds are amplified. Surgery to remove cataracts is performed when necessary.
Alport syndrome registries have been established in several countries. A registry is a special database that contains information about individuals with a specific disorder or group of conditions. The collection of data about rare disorders may enable researchers to better understand such disorders, expand the search for treatments and accelerate clinical trials into specific treatment options. Medical practitioners are encouraged to submit data from their treatment of patients with Alport syndrome.
Alport Syndrome Treatments and Outcomes Registry astor.umn.edu
Alport Syndrome Foundation Patient Registry https://alportsyndrome.org/aboutourpatientregistry/
Clinical trials in Alport syndrome typically test the efficacy of novel or repurposed agents on top of ACE inhibitor or ARB treatment. The Alport Syndrome Foundation posts active clinical trials here.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, in the main, contact: www.centerwatch.com
For more information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/
JOURNAL ARTICLES
Gibson J, Fieldhouse R, Chan MMY, et al. Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome. J Am Soc Nephrol. 2021;32(9):2273-2290. doi:10.1681/ASN.2020071065
Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020 [published correction appears in Pediatr Nephrol. 2021 Jan 12;:]. Pediatr Nephrol. 2021;36(3):711-719. doi:10.1007/s00467-020-04819-6
Kashtan C. Multidisciplinary management of Alport syndrome: Current Perspectives. J Multidiscip Healthc. 2021 May 21;14:1169-1180. doi: 10.2147/JMDH.S284784. PMID: 34045864; PMCID: PMC8149282.
Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380(2):142-151. doi:10.1056/NEJMoa1806891
Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV ฮฑ345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93(5):1045-1051. doi:10.1016/j.kint.2017.12.018
Savige, J, Colville D, Rheault MR et al. Alport syndrome in women and girls. Clin J Am Soc Nephrol 2016;11:1713-1720. https://www.ncbi.nlm.nih.gov/pubmed/27287265
Fallerini C, Dosa L, Tita R, et al. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clin Genet. 2013; [Epub ahead of print]. http://www.ncbi.nlm.nih.gov/pubmed/24033287
Kashtan CE. Long-term management of Alport syndrome in pediatric patients. Pediatric Health, Medicine and Therapeutics. 2013;4:41-45. Available at: https://www.researchgate.net/publication/274274059_Long-term_management_of_Alport_syndrome_in_pediatric_patients
Kruegel J, Rubel B, Gross O. Alport syndrome โ insights from basic and clinical research. Nat Rev Nephrol. 2013;9:170- 178. http://www.ncbi.nlm.nih.gov/pubmed/23165304
Noone D, Licht C. An update on the pathomechanisms and future therapies of Alport syndrome. Pediatr Nephrol. 2013;28:1025- 1036. http://www.ncbi.nlm.nih.gov/pubmed/22903660
Savige J, Gregory M, Gross O, et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24:364- 375. http://www.ncbi.nlm.nih.gov/pubmed/23349312
Temme J, Kramer A, Jager KJ, et al. Outcomes of male patients with Alport syndrome undergoing renal replacement therapy. Clin J Am Soc Nephrol. 2012;7:1969- 1976. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3513741/
Gross O, Licht C, Anders HJ, et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int. 2012;81:494-501. http://www.ncbi.nlm.nih.gov/pubmed/22166847
Gross O, Friede T, Hilgers R, et al. Safety and efficacy of the ACE-inhibitor Ramipril in Alport syndrome: the double-blind, randomized, placebo-controlled, multicenter phase III EARLY PRO-TECT Alport trial in pediatric patients. ISRN Pediatr. 2012;2012:436046. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395192/
Savige J. Alport syndrome: about time โ treating children with Alport syndrome. Nat Rev Nephrol. 2012;8:375- 378. http://www.ncbi.nlm.nih.gov/pubmed/22641079
INTERNET
Kashtan CE. Alport Syndrome. 2001 Aug 28 [Updated 2019 Feb 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviewsยฎ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1207/ Accessed March 11, 2024.
Kashtan CE. Clinical manifestations, diagnosis and treatment of hereditary nephritis (Alport syndrome). UpToDate, Inc. Last updated Jun 6, 2023. Available at: http://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-treatment-of-hereditary-nephritis-alport-syndrome Accessed March 11, 2024.
Meroni M, Sessa A. Alport Syndrome. Orphanet. March 2020. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=63 Accessed March 11, 2024.
Meroni M, Sessa A. X-linked Diffuse Leiomyomatosis โ Alport Syndrome. Orphanet. Feb 2020. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1018 Accessed March 11, 2024.
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