Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC36110.15690/vramn.v67i1.115SHORT MESSAGESКРАТКИЕ СООБЩЕНИЯMOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUSМОЛЕКУЛЯРНАЯ ГЕНЕТИКА И КЛИНИЧЕСКИЕ ОСОБЕННОСТИ МОНОГЕННЫХ ФОРМ САХАРНОГО ДИАБЕТАPeterkovaV. A.ПетерковаВ. А.
Russian Federation

д.м.н., профессор, член-корреспондент РАМН, директор Института детской эндокринологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (499) 124-02-66

peterkovava@hotmail.comKuraevaT. L.КураеваТ. Л.
Russian Federation

д.м.н., профессор, заведующая отделением диабетологии Института детской эндокри- нологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 85 1. Barret T.G., Ehtisham S. The emergence of type 2 diabetes in childhood. Ann Clin Biochem. 2004; 41: 10–16. 2. ISPAD Clinical Practice Consensus Guidelines 2009 Compendium. Pediatric Diabetes. 2009; 10 (Suppl. 12): 1–2. 3. ISPAD Clinical Practice Consensus Guidelines 2006–2007. Pediatric Diabetes. 2006; 7: 352–360. 4. Njolstad P.R., Molven A., Sovik O. Insulin resistance in children and adolescents with type 1 diabetes mellitus: relation to obesity. In «Diabetes in Childhood and Adolescence» Ed. Chiarelli F., DahlJogensen K., Kiess W. Karger. 2005: 86–93. 5. Hansen L., Urioste S., Petersen H.V. et al. Missense Mutations in the Human Insulin Promoter Factor-1 Gene and Their Relation to Maturity-Onset Diabetes of the Young and Late-Onset Type 2 Diabetes Mellitus in Caucasians. Clinical Endocrinology & Metabolism. 2000; 85 (3): 1323–1326. 6. Hani E.H. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest. 1999; 104: 41–48. 7. Dedov I.I., Kuraeva T.L., Peterkova V.A. Saharnyi diabet u detei i podrostkov. M. 2007. 8. Rami B., Bodamer O., Item B. et al. Clinical and molecular findings in an atypical case of IPEX-syndrome. Pediatric Diabetes. 2006; 7: 28. 9. Paskova M. Sulfonylurea instead of insulin in PNDM patients with activating mutation in the gene KCNJ11 encoding the Kir6.2 subunit led to significant improvement of DM compensation. Pediatric Diabetes. 2006; 7: 34. 10. Gloyn A., Pearson E., Antcliff J. et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004; 350: 1838–1849. 11. Barret T.G. Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered. Pediatric Diabetes. 2007; 8: 15–23. 12. Pearson E., Flechtner I., Njolstad Р. et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006; 355: 467–477. 13. Tattersal R. B., Fajans S.S. A difference between the inheritance of classicaljuvenile-onset and maturity-onset type of diabetes in young people. Diabetes. 1975; 24: 44–53. 14. Hattersley A. , Pearson E. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type. Endocrinology. 2006; 147: 2657–2663. 15. Haines L., Wan K., Lynn R. et al. Rising incidence of type 2 diabetes in children in the U.K. Diabetes Сare. 2007; 30: 1097–1101. 16. Miller S.P., An and G.R., Karschnia E.S. et al. Testing computational prediction of missense mutation phenotypes. Diabetes. 1999; 48 (8): 1645. 17. Pearson E.R., Starkey B.J., Powell R.J. et al. Genetic aetiology of hyperglycaemia determines response to treatment in diabetes. Lancet. 2003; 362: 1275–1281. 18. Strom T.M., Hortnagel K., Hofmann S. et al. Diabetes insipidus? Diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7: 2021–2028. 19. Alstrоm C.H., Hallgren B., Nilsson L.B., Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl. 1959; 129: 1–35. 20. Paisey R.B., Carey C.M., Bower L. et al. Hypertriglyceridaemia in Alstrоm’s syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf). 2004; 60: 228–231. REFERENCES 86 ВЕСТНИК РАМН /2012/ № 1 Тел.: (903) 686-05-61

endiab@mail.ruProkof’evS. A.ПрокофьевС. А.
Russian Federation

к.м.н., заведующий лабораторией генетики и клинической иммунологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (916) 443-27-31

Genetics2@yandex.ruEmel'yanovA. O.ЕмельяновА. О.
Russian Federation

к.м.н., ведущий научный сотрудник Института детской эндокринологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (916) 443-27-31, (499) 126-27-60

endiab@mail.ruZakharovaE. Yu.ЗахароваЕ. Ю.
Russian Federation

к.м.н., заведующая лабораторией наследственных болезней обмена веществ ФГБУ Медико-генетического научного центра РАМН Адрес: 115478, Москва, ул. Москворечье, 1 Тел.: (499) 324-20-04

labnbo@yandex.ruTsygankovaP. G.ЦыганковаП. Г.
Russian Federation

научный сотрудник лаборатории наследственных болезней обмена веществ ФГБУ Медико-генетического научного центра РАМН Адрес: 115478, Москва, ул. Москворечье, 1 Тел.: (499) 324-20-04

labnbo@yandex.ruGrishinaD. P.ГришинаД. П.
Russian Federation

аспирант Института детской эндокринологии ФГБУ ЭНЦ Минздравсоцразвития России Адрес: 117036, Москва, ул. Дм. Ульянова, 11 Тел.: (499) 124-45-40

s.dasha81@mail.ruScientific centre of endocrinology Ministry of Healthcare and Social development of Russia, MoscowФГБУ Эндокринологический научный центр Минздравсоцразвития России, Москва22012012671Vestnik Rossiiskoi akademii medetsinskikh nauk / Annals of the Russian academy of medical sciencesВестник Российской академии медицинских наук818607082015Copyright ©; 2012, "Paediatrician" Publishers LLCCopyright ©; 2012, Издательство "Педиатръ"2012"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/about/submissionshttps://vestnikramn.spr-journal.ru/jour/article/view/361

The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of young (MODY), DIDMOAD-syndrome, Wolframe syndrome, Alstrom syndrome and its determinating genes. The analysis of proper clinical results are present in this paper.

Статья посвящена клиническим и лабораторным особенностям неиммунных форм сахарного диабета, таким как неонатальный сахарный диабет, сахарный диабет взрослого типа у молодых (MODY), DIDMOAD-синдром, или синдром Вольфрама, синдром Альстрема, а также генам, мутации в которых определяют развитие данных синдромов. В статье представлен анализ результатов собственных клинических исследований.

monogenic diabetesnon-immune Diabetes Mellitusneonatal Diabetes MellitusMODYDIDMOAD-syndromeWolframe syndromeAlstrom syndromeмоногенные формы сахарного диабетанеиммунный сахарный диабетСД 1-го типанеонатальный сахарный диабетсиндром Вольфрамасиндром АльстремаDIDMOAD-синдром1. Barret T.G., Ehtisham S. The emergence of type 2 diabetes in childhood. Ann. Clin. Biochem. 2004; 41: 10–16.2. ISPAD Clinical Practice Consensus Guidelines 2009 Compendium. Pediatric. Diabetes. 2009; 10 (Suppl. 12): 1–2.3. ISPAD Clinical Practice Consensus Guidelines 2006–2007. Pediatric. Diabetes. 2006; 7: 352–360.4. Njolstad P.R., Molven A., Sovik O. Insulin resistance in children and adolescents with type 1 diabetes mellitus: relation to obesity. In «Diabetes in Childhood and Adolescence» Ed. Chiarelli F., DahlJogensen K., Kiess W. Karger. 2005: 86–93.5. Hansen L., Urioste S., Petersen H.V. et al. Missense Mutations in the Human Insulin Promoter Factor-1 Gene and Their Relation to Maturity-Onset Diabetes of the Young and Late-Onset Type 2 Diabetes Mellitus in Caucasians. Clinical Endocrinology & Metabolism. 2000; 85 (3): 1323–1326.6. Hani E.H. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J. Clin. Invest. 1999; 104: 41–48.7. Dedov I.I., Kuraeva T.L., Peterkova V.A. Saharnyi diabet u detei i podrostkov [Diabetes in Children and Adolescent]. Moscow, 2007.8. Rami B., Bodamer O., Item B. et al. Clinical and molecular findings in an atypical case of IPEX-syndrome. Pediatric Diabetes. 2006; 7: 28.9. Paskova M. Sulfonylurea instead of insulin in PNDM patients with activating mutation in the gene KCNJ11 encoding the Kir6.2 subunit led to significant improvement of DM compensation. Pediatric Diabetes. 2006; 7: 34.10. Gloyn A., Pearson E., Antcliff J. et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med. 2004; 350: 1838–1849.11. Barret T.G. Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered. Pediatric Diabetes. 2007; 8: 15–23.12. Pearson E., Flechtner I., Njolstad Р. et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N. Engl. J. Med. 2006; 355: 467–477.13. Tattersal R. B., Fajans S.S. A difference between the inheritance of classicaljuvenile-onset and maturity-onset type of diabetes in young people. Diabetes. 1975; 24: 44–53.14. Hattersley A. , Pearson E. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type. Endocrinology. 2006; 147: 2657–2663.15. Haines L., Wan K., Lynn R. et al. Rising incidence of type 2 diabetes in children in the U.K. Diabetes Сare. 2007; 30: 1097–1101.16. Miller S.P., An and G.R., Karschnia E.S. et al. Testing computational prediction of missense mutation phenotypes. Diabetes. 1999; 48 (8): 1645.17. Pearson E.R., Starkey B.J., Powell R.J. et al. Genetic aetiology of hyperglycaemia determines response to treatment in diabetes. Lancet. 2003; 362: 1275–1281.18. Strom T.M., Hortnagel K., Hofmann S. et al. Diabetes insipidus? Diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 1998;7: 2021–2028.19. Alstrоm C.H., Hallgren B., Nilsson L.B., Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr. Neurol Scand. Suppl. 1959; 129: 1–35.20. Paisey R.B., Carey C.M., Bower L. et al. Hypertriglyceridaemia in Alstrоm’s syndrome: causes and associations in 37 cases. Clin. Endocrinol. (Oxf). 2004; 60: 228–231.