Carbonic anhydrase II, deficiency in

[MIM 259 730, 267 200]

(Guibaud Vainsel syndrome, autosomal recessive osteopetrosis type III with renal tubular acidosis)

Prevalence < 1.106. Autosomal recessive transmission of a mutation of the CA2 (8q21.2) gene, coding for carbonic anhydrase II present in the brain and kidney.


Association of:

-        slowly progressive osteopetrosis: fragile bones, fractures, progressive loss of vision by compression of the optic nerves

-        renal tubular acidosis

-        intracerebral calcifications with variable mental retardation.

In some cases, there are episodes of muscle weakness similar to periodic familial hypokalemic paralysis (see this term).


Anesthetic implications:

check blood electrolytes and renal function, fluid strategy must be discussed with the child's nephrologist; fragile bones


References :

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Updated: November 2018