Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case. A boy aged 2.3 years was born from first normal pregnancy with a weight of 3420 gr. Family History. Two brothers of the mother died before the age of 3 years with severe infections, diarrhea, erythroderma, and elevated immunoglobulins class E (IgEs). Since first month of life, our patient suffered from septicemia, pneumonias, pyelonephritis, and meningitis, accompanied with eczematous dermatitis and IgEs up to 4000 IU/L (normal <10). At the age of 1.6 years, he developed type 1 diabetes mellitus (T1DM). He was underweighted (−3.42 SDS) and had some phenotypic features like coarse face, muscle hypotonia, joint hyperextensibility, eczematous dermatitis, and subcutaneous cold abscesses. Autoimmune thyroiditis and celiac disease were excluded. After diabetes, intermittent watery diarrhea appeared with progression to severe intractable form. Finally, aggravating symptoms of nephritis, cachexia, and respiratory insufficiency were the cause for his death at the age of 2 years and 3 months. The DNA analysis at the University of Exeter Medical School established mutation at exon 10 of FOXP3 gene c.1010G >A, p. (Arg337Gln), which confirmed IPEX syndrome. The same mutation in heterozygotic state was found in the mother. A prenatal diagnosis of her second pregnancy ensured a daughter carrier of the mutation.
View related articles View Crossmark data Citing articles: 4 View citing articles ARTICLE; MEDICAL BIOTECHNOLOGY Glycemic control in type 1 diabetes mellitus among Bulgarian children and adolescents: the results from the first and the second national examination of HbA 1c
Achievement of optimal glycaemic control in children and adolescents with type 1 diabetes depends on the knowledge of the patients and their parents about the control of the disease and the family support. The aim of this study was to investigate the importance of the social standard of the families determined by the employment of the parents and their educational qualification on the control of diabetes. Two consecutive national multi-centre cross-sectional studies of patients with type 1 diabetes, aged 0-19 years, for HbA 1c were conducted in 2012 and in 2014. The first study included 829 patients (422 boys, 407 girls), and the second -498 patients; 281 patients participated in both studies. The patients whose parents are with primary education showed the highest level of HbA 1c in both studies: 9.73% § 2.38% and 9.27% § 1.54% in the first, and the second study, respectively. The patients whose parents have university education achieved the best control: HbA 1c is 8.45% § 1.76% and 7.84% § 1.24%, respectively. The cohorts of diabetic patients whose parents have secondary (p = 0.035) and university education (p < 0.001) showed significant reduction of HbA 1c in the second study compared to the first one. The patients in families with unemployed parents or families in which only the mother is employed showed the highest levels of HbA 1c . Our results underline the importance of the educational qualification and the social standard of the family for the proper control of this chronic disease.
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