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Diagnosis, prevention and treatment of hereditary sensorineural hearing loss

1977; Wiley; Volume: 87; Issue: S7 Linguagem: Inglês

10.1288/00005537-197710001-00001

1531-4995

Conrad Proctor,

Connexins and lens biology

Abstract In the past several years it has become apparent that hearing loss is the most common chronic disability facing Americans today, afflicting 66 persons in each 1000. In the past 10 years many dramatic and important discoveries in the field of genetics, physiology, micropathology and biochemistry have demonstrated that many types of sensorineural hearing loss are now preventable and even treatable. One of the greatest challenges facing todays otolaryngologists is that of alerting audiologists, other health professionals and the general public to the importance of a complete otolaryngological workup in all persons with hearing loss. Since there are more than 1000 genetic syndromes, many of which are associated with hearing loss, it becomes almost impossible for the clinician to be well versed in more than a few of these conditions. It is most important for the otolaryngologist to be able to recognize the more common familial syndromes associated with deafness, and to be especially aware of those conditions for which prevention or treatment is now available. The more common syndromes associated with sensorineural hearing loss include diabetes mellitus (11/1000), familial hyperlipoproteinemias (10/1000), cochlear otosclerosis (5/1000), Rh incompatibility (.6/1000), Paget's disease (.5/1000), congenital rubella (.2/1000), retinitis pigmentosa (.05/1000), and Pendred's syndrome (.05/1000). Combining these 8 syndromes, we can account for 27 of the 66 persons that have a significant hearing loss among each 1000 persons in the general population of the United States. When the genetic aspects of noise‐induced hearing loss and the pharmacogenetics of ototoxicity and drug reaction are better understood, we will be able to relate over 50% of all forms of deafness to genetic predispositions. There are over 30 treatable or preventable diseases with inborn errors of metabolism, including Wilson's syndrome, gargoylism, Tay‐Sachs' syndrome, and Refsum's syndrome which are combined with hearing loss. The problem of diagnosing hereditary hearing loss is a complex and challenging one. Many forms of it do not develop until adulthood and the hereditary factors are often concealed. The importance of a careful history and thorough physical exam are stressed. Special diagnostic tests, many recently developed, are invaluable in diagnosing these conditions. A plea is made for the temporal bones of more of these patients, with special attention to the new micropathological techniques. Undoubtedly the next generation will see even greater change in the field of hereditary hearing loss, as more and more of these disorders become diagnosable and treatable.