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
- Sensorineural deafness
- Anterior Lenticonus (pathognomonic)
- Haemorrhagic nephritis
Electron microscopy is must for diagnosis.
GBM changes - Striations / irregularities , splitting of lamina densa giving Basket weave appearance.
Treatment : Symptomatic
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