The combination of two monogenic diseases, congenital lamellar ichthyosis and type 2 MODY diabetes mellitus

Autor:	A O Emel'ianov, L S Sozaeva
Rok vydání:	2013
Předmět:	medicine.medical_specialty Pediatrics business.industry Endocrinology Diabetes and Metabolism Lamellar ichthyosis medicine.disease Second pregnancy Gestational diabetes Exon Endocrinology Insulin resistance Internal medicine Diabetes mellitus medicine Medical history business Maternal grandmother
Zdroj:	Problems of Endocrinology. 59:28-32
ISSN:	2308-1430 0375-9660
DOI:	10.14341/probl201359428-32
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::159ded27511182e65ba856b3968b9c65 https://doi.org/10.14341/probl201359428-32 Zobrazit plný text záznamu