Alport Syndrome synonyms

What other names are the Alport Syndrome known by? Synonyms and other terms with which Alport Syndrome is known.


Alport Syndrome, also known as Hereditary Nephritis, is a rare genetic disorder that primarily affects the kidneys and can lead to hearing loss and eye abnormalities. It is named after the British physician, Dr. Cecil Alport, who first described the condition in 1927.



Synonyms for Alport Syndrome:




  • Hereditary Nephritis

  • Alport Nephropathy

  • Alport Disease

  • Alport Renal Disease

  • Hereditary Glomerulopathy



Alport Syndrome is caused by mutations in genes that are responsible for producing collagen, an essential protein in the body. These mutations affect the structure and function of the kidneys' filtration system, leading to progressive kidney damage over time. The condition is typically inherited in an X-linked pattern, meaning it primarily affects males, although there are also autosomal recessive and autosomal dominant forms.



The main symptoms of Alport Syndrome include:




  • Blood in the urine (hematuria)

  • Proteinuria (excessive protein in the urine)

  • Progressive loss of kidney function

  • Hearing loss, often starting in childhood

  • Eye abnormalities, such as lens dislocation and cataracts



Diagnosis of Alport Syndrome involves a combination of clinical evaluation, family history assessment, kidney function tests, urine analysis, and genetic testing. Early detection and intervention are crucial to managing the condition and preventing complications.



Treatment options for Alport Syndrome:




  • Medications to control high blood pressure and reduce proteinuria

  • Dietary modifications to manage kidney function

  • Hearing aids or cochlear implants for hearing loss

  • Regular monitoring of kidney function and overall health

  • In some cases, kidney transplantation may be necessary



While there is currently no cure for Alport Syndrome, ongoing research aims to develop targeted therapies and gene-based treatments to improve outcomes for individuals with this condition.


by Diseasemaps

According to the NIH, here are a few other names for this condition: ◾ congenital hereditary hematuria ◾ hematuria-nephropathy-deafness syndrome ◾ hematuric hereditary nephritis ◾ hemorrhagic familial nephritis ◾ hemorrhagic hereditary nephritis ◾ hereditary familial congenital hemorrhagic nephritis ◾ hereditary hematuria syndrome ◾ hereditary interstitial pyelonephritis ◾ hereditary nephritis

2/6/18 by Reata Pharmaceuticals - CARDINAL Study for Alport Syndrome

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