An extremely obese young man with newly diagnosed diabetes - classification dilemmas.

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Mutation search within monogenic diabetes genes in Polish patients with long-term type 1 diabetes and preserved kidney function.

INTRODUCTION: Some patients with type 1 diabetes (T1DM) are free from advanced complications despite long­standing disease. These patients may be carriers of gene mutations responsible for maturity­onset diabetes of the young and may have been misdiagnosed with T1DM. OBJECTIVES: We aimed to determine the clinical characteristics of patients with long­term T1DM, without advanced microvascular complications, and with well­preserved kidney function. A search for mutations in monogenic diabetes genes was performed. PATIENTS AND METHODS: Patients were recruited at 2 Polish university centers based on the following criteria: T1DM duration of 40 years or longer and absence of advanced complications defined as chronic kidney disease (estimated glomerular filtration rate [eGFR] <60 ml/min/1.73 m2 ), overt proteinuria, blindness, and diabetic foot syndrome. Mutations in the 7 most frequent monogenic diabetes genes were identified using next­generation sequencing. RESULTS: We enrolled 45 patients with T1DM (mean [SD] age at examination, 59.2 [8.0] years; mean [SD] age at T1DM diagnosis, 14.6 [6.7] years). Mean (SD) hemoglobin A1c levels were 7.6% (1.4%); daily insulin dose, 0.48 (0.17) U/kg; high­density lipoprotein (HDL) cholesterol levels, 1.9 (0.6) mmol/l; body mass index (BMI), 26.4 (5.0) kg/m2 ; and eGFR, 82.2 (12.1) ml/min/1.73 m2 . Albuminuria and retinopathy were reported in 7 and 39 patients, respectively. We were not able to assign a causative role to any of 10 genetic variants identified by next­generation sequencing in this cohort. CONCLUSIONS: Patients with long­term T1DM and preserved kidney function have good glycemic control, elevated HDL cholesterol levels, low insulin requirements, near ­normal BMI, and a rare occurrence of mutations in monogenic diabetes genes.

[Prevalence of chronic complications in patients with over 30-year history of type 1 diabetes depending on the age of onset of diabetes]. / Czestosc wystepowania przewleklych powiklan w zaleznosci od wieku rozpoznania cukrzycy typu 1 u chorych z ponad 30-letnim wywiadem choroby.

ABSTRACT: The aim of this study was to evaluate the prevalence of chronic complications in patients with type 1 diabetes with more than 30 years of history of the disease, depending on the age of onset of diabetes. The criterion for inclusion in the study was over 30-year history of type 1 diabetes. The study group was divided into two subgroups according to the age of diagnosis of type 1 diabetes (either before or after 18 years of age). Anthropometric parameters, degree of metabolic control and the presence of markers of chronic diabetic micro- and macrovascular complications were assessed. The study was performed in 215 type 1 diabetic patients with more than 30 years history of the disease, aged 54±10 years, 98 men, 117 women. In 110 patients (group I), type 1 diabetes was diagnosed before age of 18 years, in 105 patients (group II) after 18 years of age. Patients in group I were younger, with a longer duration of the disease, more often treated with intensive functional insulin. There were no differences in terms of metabolic control between the assessed groups. Patients in group I were significantly more often diagnosed with chronic diabetic kidney disease, in group II hypertension was more often observed. CONCLUSIONS: The diagnosis of type 1 diabetes before or after the age of 18 had no significant effect on the lack of chronic complications. Patients with diabetes diagnosed in childhood, after 30 years of disease, presented a higher incidence of diabetic kidney disease.

[Churg-Strauss syndrome: diagnostic and therapeutic challenge - a case report]. / Zespól Churga-Strauss: wyzwanie diagnostyczne i terapeutyczne - opis przypadku.

This report describes the Churg-Strauss syndrome (CSS) in a 23-year-old asthmatic man treated with a leukotriene antagonists-montelukast. The Churg-Strauss syndrome is now defined as one of the ANCA-associated vasculitis and is characterised by eosinophilia, asthma, chronic sinusitis, cardiomyopathy, pulmonary infiltrates, cutaneous vasculitis, gastrointestinal complaints and a muliplex neuropathy. The pathogenesis is not clear, but it has been reported in patients treated with leukotriene antagonists. We describe a case of CSS with severe pulmonary and cardiovascular complications.