The combination of two monogenic diseases, congenital lamellar ichthyosis and type 2 MODY diabetes mellitus
https://doi.org/10.14341/probl201359428-32
Abstract
A 16-year old boy, P.E., is described in whom the diagnosis of congenital lamellar ichthyosis was established at birth based on the clinical picture and confirmed by a molecular genetic study. Diabetes mellitus was first suspected at the age of 10 years based on the elevated fasting blood glucose (7.1 mmol/l) and HbA1c (7.4%) levels. The patient's medical history revealed that his maternal grandmother suffered diabetes mellitus and his mother had gestational diabetes during the second pregnancy. The patient presented with impaired carbohydrate tolerance in the absence of insulin resistance. The molecular genetic study of the GCK gene revealed a Gly80Ser mutation in the third exon sequence. We failed to find a report of the combination of congenital lamellar ichthyosis and type 2 MODY diabetes mellitus in the available literature.
References
1. Дедов И.И., Шестакова М.В. Сахарный диабет: диагностика, лечение, профилактика. М: МИА 2011; 94, 102.
2. Кураева Т.Л., Зильберман Л.И. Генетика моногенных форм сахарного диабета. Сахарный диабет 2011; 1: 20-27.
3. Дедов И.И., Петеркова В.А. Детская эндокринология. Универсум Паблишинг 2006; 582-586.
4. Gardner D.S.L., Tai E.Sh. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabet Metabol Synd Obes 2012; 5: 101-108.
5. Froguel P., Zouali H., Vionnet N. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993; 328: 697.
6. Yamagata K., Furuta H., Oda N. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY 1). Nature 1996; 384: 458.
7. Yamagata K., Oda N., Kaisaki P.J. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY 3). Nature 1996; 384: 455.
8. Borowiec M., Fendler W., Dusatkova P., Antosik K. Short Report: genetics HbA1c-based diabetes diagnosis among patients withglucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2). Diabet Med 2012; 29: 11: 1465-1469.
9. Carmen-María García-Herrero, Oscar Rubio-Cabezas, Sharona Azriel, Angel Gutierrez-Nogués. Functional Characterization of MODY 2 Mutations Highlights the Importance of the Fine-Tuning of Glucokinase and Its Role in Glucose Sensing. PLoS One 2012; 7: 1.
10. Zelent D., Najafi H., Odili S., Buettger C., Weik-Collins H. Glucokinase and glucose homeostasis: proven concepts and new ideas. Biochem Soc Trans 2005; 33: 306-310.
11. Lefevre C., Bouadjar B., Ferrand V., Tadini G., Megarbane A., Lathrop M., Prud'homme J.F., Fischer J. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type. Hum Mol Genet 2006; 15: 767-776.
12. Kelly E.J., Nakano M., Rohatgi P., Yarov-Yarovoy V., Rettie A.E. Finding Homes for Orphan Cytochrome P450s: CYP4V2 and CYP4F22 in Disease States
13. Lefevre C., Bouadjar B., Ferrand V., Tadini G., Megarbane A., Lathrop M., Prud'homme J.F., Fischer J. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type. Hum Mol Genet 2006; 15: 767-776.
14. Rodríguez-Pazos L., Ginarte M., Vega A., Toribio J. Autosomal Recessive Congenital Ichthyosis. Actas Dermosifiliogr 2012.
15. Vinzenz Oji, Heiko Traupe. Ichthyoses: Differentaial diagnosis and molecular genetics. Eur J Dermatol 2006; 16: 4: 349-359.
16. Noah Scheinfeld J.D., Libkind M., Freilich S. New-Onset Ichthyosis and Diabetes in a 14-Year-Old. Pediatr Dermatol 2001; 18: Issue 6: 501-503.
17. Yosipovitch G., Mevorah B., David M., Feinmesser M., Hodak E., Gabay B., Ammash J., Elias P.M. Migratory Ichthyosiform Dermatosis With Type 2 Diabetes Mellitus and Insulin Resistance. Arch Dermatol 1999; 135: 10: 1237-1242.
Review
For citations:
Emel'ianov A.O., Sozaeva L.S. The combination of two monogenic diseases, congenital lamellar ichthyosis and type 2 MODY diabetes mellitus. Problems of Endocrinology. 2013;59(4):28-32. (In Russ.) https://doi.org/10.14341/probl201359428-32
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