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Diagnosis: Alport Syndrome

The term Alport syndrome encompasses a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well (Saxena R. Alport Syndrome. In e-Medicina. [Full Text link]).

Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%–30% develop renal failure by 60 years and often hearing loss by middle age. Half of their sons and daughters are also affected. Autosomal recessive Alport syndrome is less common, but is often mistaken for X-linked disease. Recessive inheritance is suspected where women develop early-onset renal failure or lenticonus. Their family may be consanguineous. The prognosis for other family members is very different from X-linked disease. Other generations, including parents and offspring, are not affected, and on average only one in four of their siblings inherit the disease. All women with Alport syndrome should have their diagnosis confirmed with genetic testing, even if their renal function is normal, because of their own risk of renal failure and the risk to their offspring. Their mutations indicate the mode of inheritance and the likelihood of disease transmission to their children, and the mutation type suggests the renal prognosis for both X-linked and recessive disease. The “Expert guidelines for the diagnosis and management of Alport syndrome” recommend treating those with albuminuria with renin-angiotensin-aldosterone system (RAAS) blockade (and adequate birth control because of the teratogenic risks of angiotensin converting enzyme inhibitors), believing that this will delay renal failure. Current recommendations are that women with autosomal recessive Alport syndrome should be treated with RAAS blockade from the time of diagnosis. In addition, women should be offered genetic counseling, informed of their reproductive options, and monitored closely during pregnancy for the development of hypertension. (The text of this paragraph was taken from: Savige J, et al, Alport Syndrome in Women and Girls.. Clin J Am Soc Nephrol. 2016;11(9):1713-20. [PubMed link]).

See the chapter: Hereditary Diseases of our Tutorial.

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References

  • Watson S, Bush JS. Alport Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018. [Full Text link].
  • Saxena R. Alport Syndrome. In e-Medicina. [Full Text link].
  • Savige J. Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members. Pediatr Nephrol. 2018 Nov 30. [Epub ahead of print] [PubMed link]
  • Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F. Alport Syndrome in Women and Girls. Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-20. [PubMed link]

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