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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, CM3
Lee, CY2
Lam, CW1
Siu, WK3 4
Hung, VCN3
Chan, AYW3
 
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
2013 Impact Factor: 2.275
 
DOIhttp://dx.doi.org/10.1097/PDM.0b013e318220bb0e
 
ISI Accession Number IDWOS:000300515700009
 
DC FieldValue
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
2013 Impact Factor: 2.275
 
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
 
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<contributor.author>Lee, CY</contributor.author>
<contributor.author>Lam, CW</contributor.author>
<contributor.author>Siu, WK</contributor.author>
<contributor.author>Hung, VCN</contributor.author>
<contributor.author>Chan, AYW</contributor.author>
<date.accessioned>2012-09-20T08:11:01Z</date.accessioned>
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<date.issued>2012</date.issued>
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<description.abstract>BACKGROUND: 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&gt;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.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. The University of Hong Kong
  3. Princess Margaret Hospital Hong Kong
  4. Tuen Mun Hospital