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Article: Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation

TitlePersonalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation
Authors
Issue Date2012
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Citation
Diagnostic Molecular Pathology, 2012, v. 21 n. 1, p. 56–59 How to Cite?
AbstractBACKGROUND: Neonatal diabetes mellitus (NDM) is a rare but important condition affecting approximately 1 in 100,000 newborns. Permanent form requires life-long treatment with difficulties in long-term compliance and metabolic complications. Exact genetic diagnosis can enable improved outcome and patient satisfaction by switching insulin injection to oral sulfonylureas. Successful cases have been reported with most experience on the KCNJ11-mutated permanent form. Here we report a successful experience in an ABCC8-mutated infant with permanent NDM. PATIENT AND METHODS: A 4-month-old Chinese girl was incidentally found to have hyperglycemia with baseline C-peptide of 0.05 nmol/L requiring insulin injection of 0.2 IU/kg/d. Genetic analysis of KCNJ11 and ABCC8 was performed by polymerase chain reaction and direct DNA sequencing at the age of 3 years. Sulfonylurea transition was conducted after the ABCC8 mutation detection. RESULTS: A novel homozygous ABCC8 NM_000352.3: c.3068 A>G; NP_000343.2: p.H1023R mutation was detected. C-peptide level increased to 0.14 nmol/L and HbA1c was normalized to 5.8% from 8.0% after 8 months of oral glibenclamide treatment with a maintenance dosage of 0.65 mg/kg/d. CONCLUSIONS: In this patient with ABCC8-mutated permanent NDM, oral sulfonylurea is also effective in achieving satisfactory diabetic control. Our study adds information to the personalized medicine practice of ABCC8-mutated permanent NDM.
Persistent Identifierhttp://hdl.handle.net/10722/164854
ISSN
2015 Impact Factor: 1.474
2015 SCImago Journal Rankings: 0.887
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_US
dc.contributor.authorLee, CYen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorSiu, WKen_US
dc.contributor.authorHung, VCNen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2012-09-20T08:11:01Z-
dc.date.available2012-09-20T08:11:01Z-
dc.date.issued2012en_US
dc.identifier.citationDiagnostic Molecular Pathology, 2012, v. 21 n. 1, p. 56–59en_US
dc.identifier.issn1052-9551-
dc.identifier.urihttp://hdl.handle.net/10722/164854-
dc.description.abstractBACKGROUND: Neonatal diabetes mellitus (NDM) is a rare but important condition affecting approximately 1 in 100,000 newborns. Permanent form requires life-long treatment with difficulties in long-term compliance and metabolic complications. Exact genetic diagnosis can enable improved outcome and patient satisfaction by switching insulin injection to oral sulfonylureas. Successful cases have been reported with most experience on the KCNJ11-mutated permanent form. Here we report a successful experience in an ABCC8-mutated infant with permanent NDM. PATIENT AND METHODS: A 4-month-old Chinese girl was incidentally found to have hyperglycemia with baseline C-peptide of 0.05 nmol/L requiring insulin injection of 0.2 IU/kg/d. Genetic analysis of KCNJ11 and ABCC8 was performed by polymerase chain reaction and direct DNA sequencing at the age of 3 years. Sulfonylurea transition was conducted after the ABCC8 mutation detection. RESULTS: A novel homozygous ABCC8 NM_000352.3: c.3068 A>G; NP_000343.2: p.H1023R mutation was detected. C-peptide level increased to 0.14 nmol/L and HbA1c was normalized to 5.8% from 8.0% after 8 months of oral glibenclamide treatment with a maintenance dosage of 0.65 mg/kg/d. CONCLUSIONS: In this patient with ABCC8-mutated permanent NDM, oral sulfonylurea is also effective in achieving satisfactory diabetic control. Our study adds information to the personalized medicine practice of ABCC8-mutated permanent NDM.-
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com-
dc.relation.ispartofDiagnostic Molecular Pathologyen_US
dc.subject.meshATP-Binding Cassette Transporters - genetics-
dc.subject.meshDiabetes Mellitus - congenital - drug therapy - genetics-
dc.subject.meshGlyburide - therapeutic use-
dc.subject.meshHypoglycemic Agents - therapeutic use-
dc.subject.meshInsulin - therapeutic use-
dc.titlePersonalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutationen_US
dc.typeArticleen_US
dc.identifier.emailMak, CM: makm@ha.org.hken_US
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1097/PDM.0b013e318220bb0e-
dc.identifier.pmid22306677-
dc.identifier.scopuseid_2-s2.0-84862806790-
dc.identifier.hkuros208498en_US
dc.identifier.volume21-
dc.identifier.issue1-
dc.identifier.spage56–59-
dc.identifier.epage56–59-
dc.identifier.isiWOS:000300515700009-
dc.publisher.placeUnited States-

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