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

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TitlePersonalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation
AuthorsMak, CM4
Lee, CY3
Lam, CW1
Siu, WK2 4
Hung, VCN4
Chan, AYW4
Issue Date2012
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
CitationDiagnostic Molecular Pathology, 2012, v. 21 n. 1, p. 56–59 [How to Cite?]
DOI: http://dx.doi.org/10.1097/PDM.0b013e318220bb0e
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.
ISSN1052-9551
2011 Impact Factor: 2.257
2011 SCImago Journal Rankings: 0.248
DOIhttp://dx.doi.org/10.1097/PDM.0b013e318220bb0e
ISI Accession Number IDWOS:000300515700009
DC Field
Value
dc.contributor.authorMak, CM
dc.contributor.authorLee, CY
dc.contributor.authorLam, CW
dc.contributor.authorSiu, WK
dc.contributor.authorHung, VCN
dc.contributor.authorChan, AYW
dc.date.accessioned2012-09-20T08:11:01Z
dc.date.available2012-09-20T08:11:01Z
dc.date.issued2012
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.description.natureLink_to_subscribed_fulltext
dc.identifier.citationDiagnostic Molecular Pathology, 2012, v. 21 n. 1, p. 56–59 [How to Cite?]
DOI: http://dx.doi.org/10.1097/PDM.0b013e318220bb0e
dc.identifier.doihttp://dx.doi.org/10.1097/PDM.0b013e318220bb0e
dc.identifier.epage56–59
dc.identifier.hkuros208498
dc.identifier.isiWOS:000300515700009
dc.identifier.issn1052-9551
2011 Impact Factor: 2.257
2011 SCImago Journal Rankings: 0.248
dc.identifier.issue1
dc.identifier.pmid22306677
dc.identifier.scopuseid_2-s2.0-84862806790
dc.identifier.spage56–59
dc.identifier.urihttp://hdl.handle.net/10722/164854
dc.identifier.volume21
dc.languageeng
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
dc.publisher.placeUnited States
dc.relation.ispartofDiagnostic Molecular Pathology
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 mutation
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Tuen Mun Hospital
  3. The University of Hong Kong
  4. Princess Margaret Hospital Hong Kong