Diabetes and deafness : is it sufficient to screen for the mitochondrial 3243A>G mutation alone?  

Oleh:

Whittaker, Roger G. ; Schaefer, Andrew M. ; McFarland, Robert ; Taylor, Robert W. ; Walker, Mark ; Turnbull, Douglass M.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Diabetes Care vol. 30 no. 09 (Sep. 2007), page 2238.
Topik: mtDNA; mitochondrial DNA

Ketersediaan

Perpustakaan FK Nomor Panggil: D05.K.2007.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

The m.3243A>G mitochondrial DNA mutation is well known to be associated with deafness and diabetes, and patients presenting with these clinical features are routinely screened for this mutation. We wanted to assess whether this is a suitable screening strategy. We retrospectively reviewed the clinical notes of 242 patients who had attended a special mitochondrial clinic in the preceding 25-year period. Of the total 29 patients with mitochondrial disease presenting with deafness and diabetes, only 21 would have been correctly diagnosed by screening for the m.3243A>G mutation in blood or urine. Of the remaining eight patients, only six had other features suggestive of mitochondrial disease. We recommend that all patients with the combination of deafness and diabetes presenting to diabetes clinics be screened for the m.3243A>G mutation. In those patients in whom this test is negative, we recommend referral to a specialist neuromuscular clinic for further investigation.......

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali