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      Characterization of Diabetes Mellitus in Japanese Prader-Willi Syndrome

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          Abstract

          Prader-Willi syndrome (PWS) is frequently associated with marked obesity and diabetes mellitus (DM). Although the overall frequency of DM in PWS ranges from 7–20%, there is only limited data available on Japanese patients. This study evaluated five factors associated with DM in PWS: 1) frequency, 2) age of onset, 3) risk factors, 4) long-term complications and 5) treatment. Sixty-five patients, ranging in age from 10 to 53 yr, were studied retrospectively. The frequency of DM in patients over 10 yr of age was 26.2% (17/65 patients). The age of DM onset ranged from 10 to 29 yr with a median age of 15 yr. The body mass index (BMI) was significantly higher in the DM group in comparison with the non-DM group. The number of patients using growth hormone (GH) in the DM group was significantly lower than the number that did not. Proteinuria (urinary excretion of albumin/creatinine at spot collection: U-Alb/Cr ≥300 mg/gCr) was observed in 1/17 patients (5.9%), microalbuminuria (U-Alb/Cr 30–300 mg/gCr) was observed in 4/17 patients (23.5%) and nonproliferative retinopathy was observed in 2/17 patients (11.8%). Among oral hypoglycemic agents, alpha-glucosidase inhibitors (α-GI) were most often used in our patients (10/17, 58.8%). Eleven out of 17 patients (64.7%) had been treated with insulin.

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          Imprinting in Prader-Willi and Angelman syndromes.

          Imprinted genes are marked in the germline and retain molecular memory of their parental origin, resulting in allelic expression differences during development. Abnormalities in imprinted inheritance occur in several genetic diseases and cancer, and are exemplified by the diverse genetic defects involving chromosome 15q11-q13 in Prader-Willi (PWS) and Angelman (AS) syndromes. PWS involves loss of function of multiple paternally expressed genes, while mutations in a single gene, UBE3A, which is subject to spatially restricted imprinting, occur in some AS patients. Identification of mutations in the imprinting process in PWS and AS has led to a definition of an imprinting center (IC), involving the promoter (in PWS) or an alternative transcript of the SNRPN gene (in AS). The IC regulates initiation of imprint switching for all genes in a 2 Mb imprinted domain during gametogenesis. Imprinting mutations define a novel mechanism of genetic disease because they have no direct effect in the affected patient but, rather, it is the parental germline effect of an IC mutation that leads to disease in the offspring.
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            Type 2 diabetes in children and adolescents.

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              Microvascular and macrovascular complications associated with diabetes in children and adolescents.

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                Author and article information

                Journal
                Clin Pediatr Endocrinol
                Clin Pediatr Endocrinol
                CPE
                Clinical Pediatric Endocrinology
                The Japanese Society for Pediatric Endocrinology
                0918-5739
                1347-7358
                07 October 2011
                April 2011
                : 20
                : 2
                : 33-38
                Affiliations
                [1 ] Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan
                Author notes
                Correspondence: Dr. Takayoshi Tsuchiya, Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, 2-1-50 Minami-Koshigaya, Koshigaya, Saitama 343-8555, Japan. E-mail: t-tsuchi@ 123456dokkyomed.ac.jp
                Article
                9930
                10.1297/cpe.20.33
                3687633
                23926392
                62d2e362-8ac4-4ef9-8c60-441491d476ae
                2011©The Japanese Society for Pediatric Endocrinology

                This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.

                History
                : 24 September 2010
                : 01 December 2010
                Categories
                Clinical Investigation

                prader-willi syndrome,diabetes mellitus
                prader-willi syndrome, diabetes mellitus

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