Islet-Specific Antibody Seroconversion in Patients With Long Duration of Permanent Neonatal Diabetes Caused by Mutations in the KCNJ11 Gene  

Oleh:

Gach, Agnieszka ; Wyka, Krystyna ; Malecki, Maciej T. ; Noczynska, Anna ; Skupien, Jan ; and Others

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Diabetes Care vol. 30 no. 08 (Aug. 2007), page 2080.
Topik: Pathophysiology; Complications

Ketersediaan

Perpustakaan FK Nomor Panggil: D05.K.2007.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

INTRODUCTION Heterozygous activating mutations in the KCNJ11 gene are a common cause of permanent neonatal diabetes (PNDM). In contrast to the autoimmune type 1 diabetes, patients with KCNJ11 mutations do not have serological markers of autoimmune ß-cell destruction at disease onset. In such patients, hyperglycemia does not result from insulin-secreting cell destruction but rather from impaired insulin secretion. In addition, the majority of cases can be corrected with sulfonylurea therapy. Here, we report that carriers of the KCNJ11 mutation that are immunonegative at onset may show presence of islet antibodies in the further course of the disease. RESEARCH DESIGN AND METHODS— We sought to evaluate the clinical and genetic characteristics of patients with neonatal diabetes in Poland, using the Nationwide Registry, which was established in 2005. Automatic sequencing of the KCNJ11 gene allowed identification of 15 patients with heterozygous mutations that cause neonatal diabetes. Sera from 11 carriers of the KCNJ11 gene mutation were available for the present study. None of the patients had a family history of type 1 diabetes. Informed consent was obtained from all subjects or their parents. The study was conducted in accordance with the Declaration of Helsinki (revised in 2000) and . . .

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