Defining Characteristics
Renal tubular acidosis, cerebral calcifications, hypotonia, weakness, mental subnl
Phenotype less severe w/ age
Disease Development
Mutation in CAII renders the cell unable to generate protons from CO2 and H2O, causing loss of osteoclast resorptive function and generalized disease
Potential Causes
Bone overgrowth due to loss of osteoclast resorptive fx
Risk factors
Autosomal recessive
Lab/Imaging
UA – check for RTA
Measured in erythrocytes