When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?

ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these two situations. Subjects and methods: In this study, we analyzed 72 type 2 diabetic patients and their relatives (35F/37M) who had been suspected for MODY and referred to genetic department for mutation analysis. The gene mutations for MODY have been assessed in the laboratory of Marmara University genetics. Totally 67 (32F/35M; median age 36.1) diabetic patients were analyzed for 7 MODY mutations. Twelve patients who have uncertain mutation (VUS) were excluded from study for further evaluation. MODY(+) (n:30) patients and T2DM patients (n:25) were compared for clinical and laboratory parameters. Results: In MODY(+) subjects, mutations in GCK (MODY 2) (n:12; 40%) were the most common followed by HNF4A (MODY 1) (n:4; 13.3%). Diabetes diagnosis age was younger in MODY(+) group but not statistically significant. Sixty-six percent of MODY(+) subjects had diabetes history at 3-consecutive generations in their family compared with 28% of T2DM patients statistically significant (p:0.006). Gender, BMI, C-peptide, HbA1c, lipid parameters, creatinine, GFR, microalbuminuria, vitamin D and calcium were not statistically different between the groups. Conclusion: According to present study results, MODY mutation positivity is most probable in young autoantibody (-) diabetic patients diagnosed before 30 years of age, who have first degree family history of diabetes.

When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?

OBJECTIVE: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these two situations. METHODS: In this study, we analyzed 72 type 2 diabetic patients and their relatives (35F/37M) who had been suspected for MODY and referred to genetic department for mutation analysis. The gene mutations for MODY have been assessed in the laboratory of Marmara University genetics. Totally 67 (32F/35M; median age 36.1) diabetic patients were analyzed for 7 MODY mutations. Twelve patients who have uncertain mutation (VUS) were excluded from study for further evaluation. MODY(+) (n:30) patients and T2DM patients (n:25) were compared for clinical and laboratory parameters. RESULTS: In MODY(+) subjects, mutations in GCK (MODY 2) (n:12; 40%) were the most common followed by HNF4A (MODY 1) (n:4; 13.3%). Diabetes diagnosis age was younger in MODY(+) group but not statistically significant. Sixty-six percent of MODY(+) subjects had diabetes history at 3-consecutive generations in their family compared with 28% of T2DM patients statistically significant (p:0.006). Gender, BMI, C-peptide, HbA1c, lipid parameters, creatinine, GFR, microalbuminuria, vitamin D and calcium were not statistically different between the groups. CONCLUSION: According to present study results, MODY mutation positivity is most probable in young autoantibody (-) diabetic patients diagnosed before 30 years of age, who have first degree family history of diabetes.

Clinical significance of isolated abnormal intestinal findings in magnetic resonance enterography in patients with suspected small bowel disease.

PURPOSE: Magnetic resonance imaging (MRE) is a well-established adjunct diagnostic tool for the diagnosis of Crohn's Disease (CD), as ileocolonoscopy can sometimes be falsely reassuring when CD skips distal terminal ileum. We aimed to determine the frequency and clinical significance of isolated abnormal small bowel findings in MRE with normal ileal view in ileoscopy. METHODS: We retrospectively reviewed findings from 1611 MRE studies that were conducted between 2012 and 2018 to detect patients bearing abnormal intestinal findings and having full ileocolonoscopy. After exclusion of normal or repetitive MRE scans and previously known CD, 147 patients with abnormal MRE detected. MRE scans were categorized as suspicious of CD and non-specific findings. RESULTS: Out of 147 patients with abnormal MRE, 122 (83%) had terminal ileum involvement in MRE consistent with ileoscopy findings. Twenty-five (17%) patients were found to have solitarily abnormal intestinal findings in MRE with normal ileoscopy. Only 3 (12%) were diagnosed with CD initially, and all had MRE findings suspicious of CD. The remainder 40% (n = 10) were diagnosed with non-Crohn's small bowel disease after further investigation, while in the other 48% (n = 12) abnormal MRE findings could not be explained with any organic disease in the follow-up. CONCLUSION: The present study demonstrated that only a small portion of patients with isolated abnormal intestinal findings in MRE is CD, and more than that are non-crohn's small bowel diseases. These findings, even if they carry the suspicion of CD, do not transform to CD in the long-term follow-up.