0 Oculocerebrorenal syndrome = Lowe syndrome



Oculocerebrorenal syndrome (also called Lowe syndrome)

X linked recessive (Therefore only in males)

Eyes : Congenital Glaucoma , Congenital Cataract

Brain : Microcephaly , Mental Retardation

Kidneys : Fancony Syndrome (Generalized Proximal Tubular dysfunction)


 Note : 
Noramlly in Proximal tubule -

  • Na , 
  • HCO3 , 
  • PO4 , 
  • Amino acids and 
  • Glucose 

are reabsorbed.




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