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01-09-2008 | Article

Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study

Authors: P. Massin, D. Dubois-Laforgue, T. Meas, M. Laloi-Michelin, H. Gin, B. Bauduceau, C. Bellanné-Chantelot, E. Bertin, J.-F. Blickle, B. Bouhanick, J. Cahen-Varsaux, S. Casanova, G. Charpentier, P. Chedin, O. Dupuy, A. Grimaldi, B. Guerci, E. Kaloustian, A. Lecleire-Collet, F. Lorenzini, A. Murat, H. Narbonne, F. Olivier, V. Paquis-Flucklinger, M. Virally, M. Vincenot, B. Vialettes, J. Timsit, P. J. Guillausseau, for the GEDIAM (Mitochondrial Diabetes French Study Group)

Published in: Diabetologia | Issue 9/2008

Abstract

Aims/hypothesis

We assessed the prevalence and determinants of retinal and renal complications in patients with maternally inherited diabetes and deafness (MIDD).

Methods

This was a multicentre prospective study comparing the prevalence of retinopathy and renal disease in 74 patients with MIDD and 134 control patients matched for sex, age and clinical presentation at onset of diabetes, duration of diabetes and current treatment. Comparisons were adjusted for HbA_1c and hypertension.

Results

In MIDD patients, HbA_1c (7.6 ± 1.6 vs 8.5 ± 2.0%, p < 0.002), systolic blood pressure (126.6 ± 16.2 vs 133.1 ± 17.3 mmHg, p < 0.007) and prevalence of hypertension (33.8 vs 64.2%, p < 0.0001) were lower than in control patients. Prevalence of diabetic retinopathy was 3.7-fold lower in MIDD patients (6/74, 8 vs 40/134, 29.6%, p < 0.0001). Differences between groups remained significant after adjustment for hypertension, systolic blood pressure and HbA_1c. In MIDD, urinary albumin excretion (314.8 vs 80.1 mg/24 h, p = 0.035) and creatinine plasma levels (103.5 vs 82.2 µmol/l, p = 0.0178) were higher and GFR was lower. Impaired renal function (GFR <60 ml/min) was four- to sixfold more frequent in MIDD. Differences between MIDD and control diabetic patients further increased when adjusted for HbA_1c and systolic blood pressure (p < 0.0001). Adjustment for treatment with an ACE inhibitor or angiotensin II receptor antagonist did not modify the results.

Conclusions/interpretation

This study indicates that diabetic retinopathy is less prevalent in MIDD than in control diabetes. This suggests that retinal alterations due to mitochondrial disease may have a protective role. By contrast, nephropathy is far more frequent in MIDD, suggesting the presence of a specific renal disease independent of diabetic nephropathy.

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Title: Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study
Authors: P. Massin
D. Dubois-Laforgue
T. Meas
M. Laloi-Michelin
H. Gin
B. Bauduceau
C. Bellanné-Chantelot
E. Bertin
J.-F. Blickle
B. Bouhanick
J. Cahen-Varsaux
S. Casanova
G. Charpentier
P. Chedin
O. Dupuy
A. Grimaldi
B. Guerci
E. Kaloustian
A. Lecleire-Collet
F. Lorenzini
A. Murat
H. Narbonne
F. Olivier
V. Paquis-Flucklinger
M. Virally
M. Vincenot
B. Vialettes
J. Timsit
P. J. Guillausseau
for the GEDIAM (Mitochondrial Diabetes French Study Group)
Publication date: 01-09-2008
Publisher: Springer-Verlag
Published in: Diabetologia / Issue 9/2008
Print ISSN: 0012-186X
Electronic ISSN: 1432-0428
DOI: https://doi.org/10.1007/s00125-008-1073-1

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