Alport syndrome

Alport syndrome
Hearing loss effect of Alport syndrome in 13-year-old boy
SpecialtyMedical genetics Edit this on Wikidata

Alport syndrome is a genetic disorder[1] affecting around 1 in 5,000–10,000 children,[2] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.[3] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.[4]

The disorder was first identified in a British family by the physician Cecil A. Alport in 1927.[5][6] Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'.

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. 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.).

Depending on where the mutation is located in the genome, Alport syndrome can present itself in many forms. This includes X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), and autosomal dominant Alport syndrome (ADAS).[7]

  1. ^ "Diseases of the Kidney: Alport Syndrome". Archived from the original on 2004-06-12. Retrieved 2004-06-16.
  2. ^ "What is Alport syndrome?". Alport syndrome. Archived from the original on 2019-01-06. Retrieved 2019-01-06.
  3. ^ "Alport syndrome" at Dorland's Medical Dictionary
  4. ^ "Alport Syndrome". National Kidney Foundation. 2015-12-24. Retrieved 2022-08-01.
  5. ^ Lagona E, Tsartsali L, Kostaridou S, Skiathitou A, Georgaki E, Sotsiou F (April 2008). "Skin biopsy for the diagnosis of Alport syndrome". Hippokratia. 12 (2): 116–8. PMC 2464308. PMID 18923659.
  6. ^ Alport AC (March 1927). "Hereditary familial congenital haemorrhagic nephritis". British Medical Journal. 1 (3454): 504–6. doi:10.1136/bmj.1.3454.504. JSTOR 25322864. PMC 2454341. PMID 20773074.
  7. ^ Zaunbrecher, Nicole. "Types of Alport Syndrome". Alport Syndrome News. Retrieved 2022-08-01.