Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica: caso clínico / Finding of a new mutation in a Chilean family with monogenic diabetes: report of one case

We report a 21 years old woman, without offspring, with diabetes mellitus diagnosed at 17 years of age, without ketosis or weight loss. Her body mass index was 18 kg/m2. Her C peptide was normal (2.3 ng/ml) and diabetes mellitus type 1 autoantibodies were negative. A monogenic diabetes Maturity Onset Diabetes of the Young (MODY) was proposed. Her family study disclosed a diabetic father and a brother with altered fasting glucose levels. The University of Exeter score for MODY yielded a 75.5% probability of MODY2. In the genetic-molecular study of the glucokinase gene (MODY2), the patient had a mutation at position 1343 of exon 10, corresponding to a heterozygous substitution of guanine by adenine (1343 G >A). The same mutation was found in her father and brother. This mutation is different from those previously described in the literature. The described change determines that a glycine is replaced by aspartic at amino acid 448 of the enzyme (non-synonymous substitution). The diagnosis of MODY2 was therefore confirmed in the patient and her father. The mutation was inherited by paternal line.

Programa de transición: una intervención para adolescentes con diabetes tipo 1: estudio de casos y controles / Transition program: an intervention for adolescents with type 1 diabetes: cases and controls study

Introduction: The transition programs (TP) are planned interventions with specific aims which support type 1 diabetes adolescents in their process to emigrate from a pediatric care system to an adult care system. Objective: To evaluate the effectiveness of a TP in type 1 diabetes adolescents. Subjects and Method: This study was performed in 20 adolescents: 10 in TP and 10 controls (no TP) attended in an adult care system in a traditional way. The applied program included: coordination of attention dates, administrative supervision of the cases, and integral health team attention: physician every three months, psychologist with psychosocial follow-up every three months, nutricionist and university nurse according to the case necessities. After a year of the TP implementation the indicators of adherence were evaluated: continuity of care, regular medical appointments, physician/adolescent relationship, psychosocial follow-up, and to maintain or improve the HbA1c. The statistical analysis of variables comparison was performed with Kwallis Test o Mann-Whitney Test, in STATA 12.0 program. Results: At comparing groups, it was found that the intervened adolescents presented a major frequency of: continuity of diabetes care, regular medical appointments, physician/adolescent relationship and psychosocial follow-up (p < 0,01); the indicator of maintaining or improving the HbA1c was better in the patients with TP (60 percent vs 30 percent) yet not significant. Conclusion: In type 1 diabetes adolescents, with the applied TP we get better indicators of adherence to the diabetes treatment