Alport Syndrome -CEW

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======Alport Syndrome ======
====Main Features====
  * Disorder of basement membranes affecting the glomerulus, cochlea, and eye
====Eye Findings====
  * Lens
    * **Anterior Lenticonus** 
      * bilateral in 75%
      * usually absent at birth and appears in 2nd or 3rd decade 
      * present in 50% of males with X-linked 
      * may have associated cataract
      * Rarely associated with capsular rupture
    * Posterior subcapsular cataract associated with diffuse leiomyomatosis 
  * **Fleck Retinopathy**- whiteish/yellow flecks in the perimacular region 70% males and 20% females 
    * associated with retinal failure before age 30 in males
    * peripheral retinopathy with temporal retinal thinning on OCT is common
  * Cornea
    * posterior polymorphous corneal dystrophy and recurrent erosion
  * Macular hole- rare
====Other Findings====
  * Renal
    * persistent microscopic hematuria, progressing to proteinuria, declining GFR, and ultimately end-stage kidney disease (ESKD)
    * kidney biopsy shows **basket-weave** appearance of glomerular basement membrane, thickening and splitting of the lamina densa 
    * early treatment with renin-angiotensin system blockers can delay progression of end-stage renal disease 
  * Hearing
    * Progressive bilateral high-tone sensorineural hearing loss usually develops by late childhood or early adolescence 
====Etiology====
  * X-Linked 80%- COL4A5 mutations
  * Autosomal Recessive 15%- biallelic COL4A3 or COL4A4 mutations
  * Autosomal Dominant 
====Resources====
  - [[https://www.ncbi.nlm.nih.gov/books/NBK1207/|Alport Syndrome. Nozu K, Yamamura T, Horinouchi T. GeneReviews®]]
  - [[https://pubmed.ncbi.nlm.nih.gov/25649157/|Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance. Savige J, Sheth S, Leys A, et al. Clinical Journal of the American Society of Nephrology : CJASN. 2015;10(4):703-9]]
  - [[https://pubmed.ncbi.nlm.nih.gov/40938675/|Treatment Approaches for Alport Syndrome. Rheault MN. Journal of the American Society of Nephrology : JASN. 2025;:00001751-990000000-00770]]

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syndrome