[MIM 614 650]

Very rare. Autosomal recessive transmission of a mutation of the COQ6 gene (14q24.3), resulting in:

-         congenital nephrotic syndrome with lesions of focal glomerulosclerosis at renal biopsy; it is corticosteroid-resistant and  evolves rapidly to renal failure

-        sensorineural deafness.

Some patients improve with supplements of coenzyme Q.

Anesthetic implications: 

check renal function; hypoalbuminemia

References : 

Updated: July 2018