GLUKOKİNAZ GEN MUTASYONU POZİTİF OLAN GENÇ ERİŞKİN DÖNEMDE BAŞLAYAN DİYABETLİ HASTALARDA KOROİD KALINLIĞI

Year 2022, Volume: 23 Issue: 3, 271 - 275, 18.07.2022

Osman Çelikay , Tolga Biçer , Mustafa Köşker , Naciye Kabataş , Erman Çakal , Canan Gürdal

https://doi.org/10.18229/kocatepetip.905627

Abstract

AMAÇ: Glukokinaz (GCK) gen mutasyonu pozitif olan Genç Erişkin Dönemde Başlayan Diyabet (Maturity Onset Diabetes of Young - MODY) tanısı alan olgularla sağlıklı bireylerin koroid tabakası kalınlıklarının karşılaştırılması amaçlandı.
GEREÇ VE YÖNTEM: MODY tanısı GCK gen mutasyonu bakılarak doğrulanmış olan ama diyabetik retinopatisi olmayan 30 hasta (MODY grubu) ve 30 sağlıklı kişi (kontrol grubu) çalışmaya dahil edildi. Kontrol grubu, MODY grubu ile yaş, cinsiyet, refraktif kusur ve aksiyel uzunluk açısından uyumlu seçildi. Koroid kalınlığı hastaların sağ gözünde foveada, foveadan 1500 μm ve 3000 μm uzaklıklarda nazalde ve temporalde RTVue-100 Fourier-domain optik koherens tomografi (OKT) kullanılarak ölçüldü.
BULGULAR: MODY tanı zamanı 4.1±5.8 yıl (aralık; 0-17 yıl) idi. Ortalama HBa1c düzeyi 5.1 (aralık: 4.4-6.2, referans aralık: 4-6) iken hiçbir hastada diyabetik retinopati yoktu. Ortalama subfoveal koroid kalınlığı subfoveal alanda MODY grubunda 370.09± 86.66 μm iken kontrol grubunda 354.44 ± 76.70 μm idi (p=0.456). Koroid kalınlığı nazal 1500 μm’de (sırasıyla 300.75 ± 67.02 ve 296.13 ± 73.45 μm, p=0.672), nazal 3000 μm’de (184.56 ± 45.53 ve 192.94 ± 57.63 μm, p=0.485), temporal 1500 μm’de (325.16 ± 59.41 ve 299.59 ± 67.81 μm, p=0.093) ve temporal 3000 μm’de (261.88 ± 43.30 ve 256.75 ± 50.83 μm, p=0.582) istatistiksel anlamlı değişiklikler göstermedi.
SONUÇ: Literatürde diyabetin koroid üzerine etkilerini araştıran birçok çalışma olmasına rağmen, bu çalışma spesifik olarak MODY’li hastalarda koroid kalınlığının değerlendirildiği ilk çalışmadır. Diyabetik retinopatisi olmayan MODY’li hastalarda koroid kalınlığı etkilenmeyebilir. Bu MODY’li hastaların genç olmasına, MODY süresinin kısa olmasına ve diyabet regülasyonunun iyi olmasına bağlanabilir.

Keywords

Genç erişkin başlangıçlı diyabet, Koroid kalınlığı, Diyabetik retinopati.

Supporting Institution

Çalışmamız herhanig bir kişi ya da kurum/kuruluş tarafından desteklenmemiştir.

CHOROIDAL THICKNESS IN PATIENTS OF MATURITY ONSET DIABETES OF THE YOUNG WITH POSITIVE GLUCOKINASE GENE MUTATION

Abstract

OBJECTIVE: The aim of this study was to compare the choroi-dal thickness (CT) of patients diagnosed with maturity onset di-abetes of young (MODY) with positive glucokinase (GCK) gene mutation with healthy individuals.
MATERIAL AND METHODS: Thirty patients (MODY group) and and 30 healthy individuals (control group) whose diagnosis of MODY was confirmed by looking for GCK gene mutation but without diabetic retinopathy were included in this study. The control group was selected to be compatible with the MODY group for age, sex, refractive error and axial length. The choroidal thickness was measured at the fovea in the right eye of the patients, 1.5 mm and 3 mm away to the fovea in nasal and temporal side using RTVue-100 Fourier-domain optical coherence tomography (OCT).
RESULTS: MODY diagnosis time was 4.1±5.8 years (range; 0- 17 years). While the average HBa1c levels were 5.1 (range:4.4-6.2, reference range:4-6), none of the patients were diagnosed with diabetic retinopathy. The mean subfoveal CT was 370.09 ± 86.66 μm in the MODY group and 354.44 ± 76.70 μm in the control group (p=0.456). The choroidal thickness at nasal 1.5 mm (300.75 ± 67.02 and 296.13 ± 73.45 μm respectively, p=0.672), nasal 3 mm (184.56 ± 45.53 and 192.94 ± 57.63 μm respectively, p=0.485), temporal 1.5 mm (325.16 ± 59.41 and 299.59 ± 67.81 μm respectively, p=0.093), and temporal 3 mm (261.88 ± 43.30 and 256.75 ± 50.83 μm respectively, p=0.582) did not show statistically significant changes.
CONCLUSIONS: Although there have been lots of studies which examined the effects of diabetis on choroidal changes in the literature, this study is the first to specifically evaluate choroidal thickness in patients with MODY. The CT may not be affected in MODY patients without diabetic retinopathy. This can be attributed to the fact that the patients with MODY are young, the duration of MODY is short and diabetes regulation is good.

Keywords

Maturity onset diabetes of young, Choroidal thickness, Diabetic retinopathy

References

• 1. Marçal AC, Leonelli M, Fiamoncini J, et al. Diet-induced obesity impairs AKT signalling in the retina and causes retinal degeneration. Cell Biochem Funct. 2013;31(1):65-74.
• 2. Hammes HP, Federoff HJ, Brownlee M. Nerve growth factor prevents both neuroretinal programmed cell death and capillary pathology in experimental diabetes. Mol Med Camb Mass. 1995;1(5):527-34.
• 3. Esmaeelpour M, Brunner S, Ansari-Shahrezaei S, et al. Choroidal thinning in diabetes type 1 detected by 3-dimensional 1060 nm optical coherence tomography. Invest Ophthalmol Vis Sci. 2012;53(11):6803-9.
• 4. Nagaoka T, Kitaya N, Sugawara R, et al. Alteration of choroidal circulation in the foveal region in patients with type 2 diabetes. Br J Ophthalmol. 2004;88(8):1060-3.
• 5. Shiragami C, Shiraga F, Matsuo T, et al. Risk factors for diabetic choroidopathy in patients with diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol. 2002;240(6):436-42.
• 6. Pajans SS. MODY: a model for understanding the pathogeneses and natural history of type II diabetes. Horm Metab Res. 1987;19(12):591-9.
• 7. Ledermann HM. Maturity-onset diabetes of the young (MODY) at least ten times more common in Europe than previously assumed. Diabetologia. 1995;38(12):1482.
• 8. Ağladıoğlu SY, Aycan Z, Çetinkaya S, et al. Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing. J Pediatr Endocrinol Metab. 2016;29(4):487-96.
• 9. Thanabalasingham G, Owen KR. Diagnosis and management of maturity onset diabetes of the young (MODY). Brit Med J. 2011;(343):d6044.
• 10. Early Treatment Diabetic Retinopathy Study Research Group. Grading diabetic retinopathy from stereoscopic color fundus photographs, an extension of the modified Airlie House classification. ETDRS report number 10. Ophthalmology. 1991;98(5):786-806.
• 11. Sanger, F, Nicklen, S, Coulson AR. DNA sequencing with chain- terminating inhibitors. Proceedings of the National Academy of Sciences. 1977;74(12):5463-7.
• 12. Querques G, Lattanzio R, Querques L, et al. Enhanced depth imaging optical coherence tomography in type 2 diabetes. Invest Ophthalmol Vis Sci. 2012;53(10):6017-24.
• 13. Şahin M, Şahin A, Kılınç F ve ark. Yeni Tanılı Diyabetes Mellitus Hastalarında Peripapiller Retina Sinir Lifi Tabakası Ve Subfoveal Koroid Kalınlığının Spektralis OCT İle Değerlendirilmesi. Dicle Tıp Dergisi. 2016; 43 (3): 435-40.
• 14. Ulaş F, Doğan Ü, Çelik F, Soydan A, Celebi S, Dikbas O. Diyabetik Retinopati Gelişmemiş Diyabetik Olgularda Retina, Retina Sinir Lifi Tabakası ve Koroid Kalınlığının Değerlendirilmesi. Retina-Vitreus. 2015;23(4):331-5.
• 15. Matschinsky FM, Randle, PJ. Evolution of the glucokinase glucose sensor paradigm for pancreatic beta cells. Diabetologia. 1993;36(11):1215–7.
• 16. Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes. N Engl J Med. 1993;328(10):697‐702.
• 17. Cerf ME. Transcription factors regulating beta‐cell function. Eur J Endocrinol. 2006;155(5):671‐9.
• 18. Kapoor RR, Locke J, Colclough K, et al. Persistent hyperinsulinemic hypoglycaemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes. 2008;57(6):1659–63.
• 19. Bellanné‐Chantelot C, Chauveau D, Gautier JF, et al. Clinical spectrum associated with hepatocyte nuclear factor‐1beta mutations. Ann Intern Med. 2004;140(7):510‐7.
• 20. Klein R, Klein BE, Moss SE, Davis ME, De Mets DL. The Wisconsin epidemiologic study of diabetic retinopathy. III. Prevalence and risk of diabetic retinopathy when age at diagnosis is 30 or more years. Arch Ophtalmol. 1984;102(4):4527-32.