Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott—Rallison syndrome)
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 کاملWolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed ...
متن کاملA mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
OBJECTIVE We sought to examine the molecular mechanisms underlying permanenent neonatal diabetes mellitus (PNDM) in a patient with a heterozygous de novo L225P mutation in the L0 region of the sulfonylurea receptor (SUR)1, the regulatory subunit of the pancreatic ATP-sensitive K(+) channel (K(ATP) channel). RESEARCH DESIGN AND METHODS The effects of L225P on the properties of recombinant K(AT...
متن کاملPermanent neonatal diabetes due to a heterozygous INS mutation
Permanent Neonatal Diabetes Mellitus (PNDM) is a rare disorder where patient presents with diabetes within the first few months of life without autoantibodies associated with type 1 diabetes. The majority of PNDM cases have INS, ABCC8 or KCNJ11 mutations. We present a PNDM case with INS mutation. The proband is a second child of three siblings without family history of diabetes. She was born at...
متن کاملPermanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.
CONTEXT Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment. CASE REPORT We describe a case of permanent neonatal diabetes mellitus due to a novel muta...
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ژورنال
عنوان ژورنال: Problems of Endocrinology
سال: 2015
ISSN: 2308-1430,0375-9660
DOI: 10.14341/probl201561631-35