| Neonatal diabetes mellitus: description of two Puerto Rican children with KCNJ11 activating gene mutation. | |
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MedLine Citation:
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PMID: 21682153 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neonatal diabetes mellitus (NDM) is a rare disorder. A one-month-old boy presented with vomiting, hyperglycemia (968 mg/dl [53.8 mmol/L]), severe acetonemia, and metabolic acidosis (pH 6.95, HCO3-4.2 mmol/L). A second child (three months of age) presented with upper respiratory tract symptoms and a plasma glucose level of 835 mg/dl, without acetonemia or acidosis. Both were hospitalized and managed with intravenous fluids and then discharged on insulin. Genetic testing identified the presence of the de nova V59M and E322K activating mutations in the KCNJ11 gene encoding the sulphonylurea/potassium channel (Kir6.2 subunit) of the insulin beta cell. Both patients were switched to glibenclamide and remain off insulin. To our knowledge, these are the first children in Puerto Rico identified with NDM secondary to a KCNJ11 activating mutation. We conclude that NDM secondary to KCNJ11/Kir6.2 activating mutations, although unusual, should be considered in similar cases since patients with these mutations could come off insulin. |
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Authors:
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Francisco Nieves-Rivera; Lilliam González-Pijem |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Puerto Rico health sciences journal Volume: 30 ISSN: 0738-0658 ISO Abbreviation: P R Health Sci J Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-06-20 Completed Date: 2011-08-30 Revised Date: 2011-09-30 |
Medline Journal Info:
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Nlm Unique ID: 8303541 Medline TA: P R Health Sci J Country: Puerto Rico |
Other Details:
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Languages: eng Pagination: 87-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, School of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico. francisco.nieves2@upr.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Diabetes Mellitus
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genetics* Humans Infant Infant, Newborn Male Mutation* Potassium Channels, Inwardly Rectifying / genetics* Puerto Rico |
| Chemical | |
Reg. No./Substance:
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0/Kir6.2 channel; 0/Potassium Channels, Inwardly Rectifying |
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