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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