Literature DB >> 18581092

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.

P Massin1, 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.   

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 micromol/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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Year:  2008        PMID: 18581092     DOI: 10.1007/s00125-008-1073-1

Source DB:  PubMed          Journal:  Diabetologia        ISSN: 0012-186X            Impact factor:   10.122


  39 in total

1.  Focal segmental glomerulosclerosis associated with mitochondrial cytopathy.

Authors:  L M Doleris; G S Hill; P Chedin; D Nochy; C Bellanne-Chantelot; T Hanslik; J Bedrossian; S Caillat-Zucman; J Cahen-Varsaux; J Bariety
Journal:  Kidney Int       Date:  2000-11       Impact factor: 10.612

2.  The influence of the photoreceptor-RPE complex on the inner retina. An explanation for the beneficial effects of photocoagulation.

Authors:  J J Weiter; R Zuckerman
Journal:  Ophthalmology       Date:  1980-11       Impact factor: 12.079

3.  Grading diabetic retinopathy from stereoscopic color fundus photographs--an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study Research Group.

Authors: 
Journal:  Ophthalmology       Date:  1991-05       Impact factor: 12.079

Review 4.  Renal complications in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA.

Authors:  Motoharu Hirano; Konosuke Konishi; Naoko Arata; Masahiro Iyori; Takayuki Saruta; Shigeru Kuramochi; Masashi Akizuki
Journal:  Intern Med       Date:  2002-02       Impact factor: 1.271

5.  A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group.

Authors:  A S Levey; J P Bosch; J B Lewis; T Greene; N Rogers; D Roth
Journal:  Ann Intern Med       Date:  1999-03-16       Impact factor: 25.391

6.  Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: maternal inheritance and mitochondria-related complications.

Authors:  Susumu Suzuki; Yoshitomo Oka; Takashi Kadowaki; Azuma Kanatsuka; Takeshi Kuzuya; Masashi Kobayashi; Tokio Sanke; Yutaka Seino; Kishio Nanjo
Journal:  Diabetes Res Clin Pract       Date:  2003-03       Impact factor: 5.602

7.  The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.

Authors:  Bruno Guéry; Gabriel Choukroun; Laure-Hélène Noël; Pierre Clavel; Agnès Rötig; Sophie Lebon; Pierre Rustin; Christine Bellané-Chantelot; Béatrice Mougenot; Jean-Pierre Grünfeld; Dominique Chauveau
Journal:  J Am Soc Nephrol       Date:  2003-08       Impact factor: 10.121

8.  Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients.

Authors:  H Katagiri; T Asano; H Ishihara; K Inukai; M Anai; T Yamanouchi; K Tsukuda; M Kikuchi; H Kitaoka; N Ohsawa
Journal:  Diabetologia       Date:  1994-05       Impact factor: 10.122

9.  Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).

Authors:  P J Guillausseau; D Dubois-Laforgue; P Massin; M Laloi-Michelin; C Bellanné-Chantelot; H Gin; E Bertin; J F Blickle; B Bauduceau; B Bouhanick; J Cahen-Varsaux; S Casanova; G Charpentier; P Chedin; C Derrien; A Grimaldi; B Guerci; E Kaloustian; F Lorenzini; A Murat; F Olivier; M Paques; V Paquis-Flucklinger; A Tielmans; M Vincenot; B Vialettes; J Timsit
Journal:  Diabetes Metab       Date:  2004-04       Impact factor: 6.041

10.  Incidence of sight-threatening retinopathy in Type 1 diabetes in a systematic screening programme.

Authors:  N Younis; D M Broadbent; S P Harding; J P Vora
Journal:  Diabet Med       Date:  2003-09       Impact factor: 4.359

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  10 in total

Review 1.  The pathogenesis of early retinal changes of diabetic retinopathy.

Authors:  G B Arden; S Sivaprasad
Journal:  Doc Ophthalmol       Date:  2012-02       Impact factor: 2.379

2.  Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy.

Authors:  Cynthia X Qian; Kari Branham; Naheed Khan; Steven K Lundy; John R Heckenlively; Thiran Jayasundera
Journal:  Ophthalmic Genet       Date:  2017-01-31       Impact factor: 1.803

3.  The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Oman Med J       Date:  2018-09

Review 4.  Mitochondrial deficiency in Cockayne syndrome.

Authors:  Morten Scheibye-Knudsen; Deborah L Croteau; Vilhelm A Bohr
Journal:  Mech Ageing Dev       Date:  2013-02-19       Impact factor: 5.432

5.  Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.

Authors:  Kristin E D'Aco; Megan Manno; Colleen Clarke; Jaya Ganesh; Kevin E C Meyers; Neal Sondheimer
Journal:  Pediatr Nephrol       Date:  2012-11-08       Impact factor: 3.714

Review 6.  Endocrine manifestations related to inherited metabolic diseases in adults.

Authors:  Marie-Christine Vantyghem; Dries Dobbelaere; Karine Mention; Jean-Louis Wemeau; Jean-Marie Saudubray; Claire Douillard
Journal:  Orphanet J Rare Dis       Date:  2012-01-28       Impact factor: 4.123

7.  Diabetes and nephrotic syndrome: Answers.

Authors:  Rodney D Gilbert; Edward Hind; Bhumita Vadgama
Journal:  Pediatr Nephrol       Date:  2016-12-23       Impact factor: 3.714

8.  Clinicopathologic Features of Mitochondrial Nephropathy.

Authors:  Toshiyuki Imasawa; Daishi Hirano; Kandai Nozu; Hiroshi Kitamura; Motoshi Hattori; Hitoshi Sugiyama; Hiroshi Sato; Kei Murayama
Journal:  Kidney Int Rep       Date:  2022-01-11

9.  Endocrine Manifestations and New Developments in Mitochondrial Disease.

Authors:  Yi Shiau Ng; Albert Zishen Lim; Grigorios Panagiotou; Doug M Turnbull; Mark Walker
Journal:  Endocr Rev       Date:  2022-05-12       Impact factor: 25.261

10.  [Diagnostic approach of macular degeneration with "spectral-domain" OCT: clinical case].

Authors:  Aziz El Ouafi; Med El Mellaoui; Abdelkader Laktaoui
Journal:  Pan Afr Med J       Date:  2015-09-22
  10 in total

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