Carbonic anhydrase II, deficiency in
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(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