Vertigo Research Today is a free monthly online journal that collates and summarizes the latest research about Vertigo, including details on causes, symptoms, treatment, dizziness. | ||||||||
|
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes.Sugiura M, Sato E, Nakashima T, Sugiura J, Furuhashi A, Yoshino T, Nakayama A, Mori N, Murakami H, Naganawa S Department of Otorhinolaryngology, Nagoya University School of Medicine 65, Tsurumai-cho Showa-ku, 466-8550, Nagoya, Japan, makotos@med.nagoya-u.ac.jp. Fourteen patients with a Pendred syndrome gene ( Pds) mutation and three patients without the mutation were studied to evaluate long-term vestibular and auditory manifestations among patients with bilateral enlarged vestibular aqueducts (EVA). Charts were reviewed retrospectively for age, gender, otological history, presence or absence of vertigo, results of magnetic resonance imaging, relevant gene mutations and perchlorate discharge test. A missense mutation, His 723 Arg (H723R), was identified in the homozygous state in six patients and in the heterozygous state in seven patients. Another missense mutation, Tyr 410 Met (T410 M), was identified in the heterozygous state in one patient. Patients with vertigo tended to have hearing fluctuation, compared with the patients without vertigo. Patients homozygous for H723R tended to have more episodes of vertigo than the heterozygous individuals. Only one patient who was homozygous for H723R had goiter. The long-term outcome of hearing level in patients with the H723R mutation was significantly better compared with published results for patients with a Pds mutation, but not for those with the H723R mutation. Whether environmental factors or a subtype of the Pds mutation H723R are related to the long-term outcome for these patients must be clarified. Published 10 October 2005 in Eur Arch Otorhinolaryngol, 262(9): 737-43.
© 2005-2008 Vertigo Research Today. All Rights Reserved. |
| ||||||
