Are aRMC5 mutations common in familial bilateral macronodular adrenal hyperplasia?
Our studies have detected ARMC5 mutations in 4 of 5 BMAH families tested, confirming that these mutations are a frequent cause of BMAH. Two of the 4 families had novel mutations, indicating allelic heterogeneity. Preclinical evaluation did not predict mutation status. The ARMC5-negative family had unusual prominent hyperaldosteronism. Further studies are needed to determine the penetrance of BMAH in ARMC5 mutation-positive relatives of affected patients, the practical utility of genetic screening and genotype-phenotype correlations.
The major advantage of this technique is the avoidance of incus necrosis and foreign body reactions related to the material of the prosthesis. Disadvantages are technical plus the longer duration of the procedure.