Genetics of neonatal diabetes mellitus.
نویسندگان
چکیده
منابع مشابه
Genetic Susceptibility to Transient and Permanent Neonatal Diabetes Mellitus
Neonatal diabetes mellitus (NDM) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. Clinically, it is categorized into two main types: transient NDM (TNDM) and permanent NDM (PNDM). These types are diagnosed based on duration of insulin dependence early in the disease. In TNDM, diabetes begins in the first few weeks of life with remission in a few months. Howev...
متن کاملSuccessful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene
Neonatal diabetes mellitus is considered a rare disease that is diagnosed in the first six months of life, and can be either transient or permanent. Recent advances in molecular genetics have shown that activating mutations in KCNJ11 (the gene that encodes for the Kir6.2 subunit of the K ATP potassium channel of the pancreatic beta-cell) is a common cause of permanent neonatal diabetes mellitus...
متن کاملFurther evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.
Transient neonatal diabetes mellitus (TNDM) is a rare form of childhood diabetes which usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult onset. We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two children with TNDM and proposed that there may be an imprinted gene important in the aetiology of diabetes on chromosome 6. ...
متن کاملOrganisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.
Neonatal diabetes mellitus is a rare condition, the causes of which are mostly unknown. One well defined though very rare entity is the autosomal recessive Wolcott-Rallison syndrome, in which permanent neonatal diabetes, osteopenia, and epiphyseal dysplasia occur. Only five previous families have been reported, and here we describe the second in which parental consanguinity was present. The pro...
متن کاملPaternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
We report an infant with intrauterine growth retardation and transient neonatal diabetes who has paternal uniparental disomy for chromosome 6. The infant was not dysmorphic and had no congenital anomalies. To our knowledge, this is the third case of paternal uniparental disomy occurring in an infant with transient neonatal diabetes, thus confirming the association.
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ورودعنوان ژورنال:
- Acta medica Iranica
دوره 51 1 شماره
صفحات -
تاریخ انتشار 2013