Genetically targeted dipeptidyl peptidase-4 inhibitor use in a patient with a novel mutation of MODY type 4

Christian Mangrum, Eric Rush, Vijay Shivaswamy

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Maturity onset diabetes of the young (MODY) is a rare form of diabetes mellitus typically seen in young adults that results from pancreatic beta-cell dysfunction. MODY4 is a rare subtype caused by a PDX1 mutation. In this case, we present a nonobese 26-year-old male with polyuria and poly-dipsia. Lab work showed a blood glucose of 511 mg/dL, no ketones or antibodies (insulin, islet cell, and glutamic acid decarboxylase [GAD]), C-peptide of 1.6 ng/mL, and A1c 9.3%. Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient’s particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. Our case report identifies a unique mutation in a rare form of MODY and outlines management of ensuing diabetes through targeting its inherent genetic mutation.

Original languageEnglish (US)
Article numberA013
Pages (from-to)83-86
Number of pages4
JournalClinical Medicine Insights: Endocrinology and Diabetes
Volume8
DOIs
StatePublished - Jan 1 2015

Fingerprint

Dipeptidyl-Peptidase IV Inhibitors
Mutation
Incretins
Polyuria
Glutamate Decarboxylase
Glyburide
Nonsense Codon
C-Peptide
Insulin-Secreting Cells
Ketones
Blood Glucose
Young Adult
Diabetes Mellitus
Insulin
Maturity-Onset Diabetes of the Young, Type 4
Genes
Mason-Type Diabetes

Keywords

  • Diabetes
  • Dipeptidyl peptidase-4 inhibitor
  • Genetics
  • MODY
  • MODY4

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Internal Medicine

Cite this

Genetically targeted dipeptidyl peptidase-4 inhibitor use in a patient with a novel mutation of MODY type 4. / Mangrum, Christian; Rush, Eric; Shivaswamy, Vijay.

In: Clinical Medicine Insights: Endocrinology and Diabetes, Vol. 8, A013, 01.01.2015, p. 83-86.

Research output: Contribution to journalArticle

@article{579f6ac31125421b90eb9bd86380e29f,
title = "Genetically targeted dipeptidyl peptidase-4 inhibitor use in a patient with a novel mutation of MODY type 4",
abstract = "Maturity onset diabetes of the young (MODY) is a rare form of diabetes mellitus typically seen in young adults that results from pancreatic beta-cell dysfunction. MODY4 is a rare subtype caused by a PDX1 mutation. In this case, we present a nonobese 26-year-old male with polyuria and poly-dipsia. Lab work showed a blood glucose of 511 mg/dL, no ketones or antibodies (insulin, islet cell, and glutamic acid decarboxylase [GAD]), C-peptide of 1.6 ng/mL, and A1c 9.3{\%}. Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient’s particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. Our case report identifies a unique mutation in a rare form of MODY and outlines management of ensuing diabetes through targeting its inherent genetic mutation.",
keywords = "Diabetes, Dipeptidyl peptidase-4 inhibitor, Genetics, MODY, MODY4",
author = "Christian Mangrum and Eric Rush and Vijay Shivaswamy",
year = "2015",
month = "1",
day = "1",
doi = "10.4137/CMED.S31926",
language = "English (US)",
volume = "8",
pages = "83--86",
journal = "Clinical Medicine Insights: Endocrinology and Diabetes",
issn = "1179-5514",
publisher = "Libertas Academica Ltd.",

}

TY - JOUR

T1 - Genetically targeted dipeptidyl peptidase-4 inhibitor use in a patient with a novel mutation of MODY type 4

AU - Mangrum, Christian

AU - Rush, Eric

AU - Shivaswamy, Vijay

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Maturity onset diabetes of the young (MODY) is a rare form of diabetes mellitus typically seen in young adults that results from pancreatic beta-cell dysfunction. MODY4 is a rare subtype caused by a PDX1 mutation. In this case, we present a nonobese 26-year-old male with polyuria and poly-dipsia. Lab work showed a blood glucose of 511 mg/dL, no ketones or antibodies (insulin, islet cell, and glutamic acid decarboxylase [GAD]), C-peptide of 1.6 ng/mL, and A1c 9.3%. Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient’s particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. Our case report identifies a unique mutation in a rare form of MODY and outlines management of ensuing diabetes through targeting its inherent genetic mutation.

AB - Maturity onset diabetes of the young (MODY) is a rare form of diabetes mellitus typically seen in young adults that results from pancreatic beta-cell dysfunction. MODY4 is a rare subtype caused by a PDX1 mutation. In this case, we present a nonobese 26-year-old male with polyuria and poly-dipsia. Lab work showed a blood glucose of 511 mg/dL, no ketones or antibodies (insulin, islet cell, and glutamic acid decarboxylase [GAD]), C-peptide of 1.6 ng/mL, and A1c 9.3%. Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient’s particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. Our case report identifies a unique mutation in a rare form of MODY and outlines management of ensuing diabetes through targeting its inherent genetic mutation.

KW - Diabetes

KW - Dipeptidyl peptidase-4 inhibitor

KW - Genetics

KW - MODY

KW - MODY4

UR - http://www.scopus.com/inward/record.url?scp=84945914126&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84945914126&partnerID=8YFLogxK

U2 - 10.4137/CMED.S31926

DO - 10.4137/CMED.S31926

M3 - Article

VL - 8

SP - 83

EP - 86

JO - Clinical Medicine Insights: Endocrinology and Diabetes

JF - Clinical Medicine Insights: Endocrinology and Diabetes

SN - 1179-5514

M1 - A013

ER -