0 Alport Syndrome

Alport Syndrome

Mutation involving Alpha 5 domain of type 4 Collagen.
( Confuser : Alpha 3 domain of type 4 collagen is the antigen involved in Good pasture syndrome )

Most commonly - X-Linked dominant

Triad :
  1. Sensorineural deafness
  2. Anterior Lenticonus (pathognomonic)
  3. Haemorrhagic nephritis

Electron microscopy is must for diagnosis.

GBM changes -  Striations / irregularities , splitting of lamina densa giving Basket weave appearance.

Treatment : Symptomatic

MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

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