PMID- 37520758
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240215
IS  - 2376-0605 (Electronic)
IS  - 2376-0605 (Linking)
VI  - 9
IP  - 4
DP  - 2023 Jul-Aug
TI  - ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an 
      Adolescent.
PG  - 101-103
LID - 10.1016/j.aace.2023.04.001 [doi]
AB  - BACKGROUND: Identifying cases of diabetes caused by single gene mutations between 
      the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult 
      but important task. We report the diagnosis of ATP-binding cassette transporter 
      sub-family C member 8 (ABCC8)-related monogenic diabetes in a 35-year-old woman 
      with a protective human leukocyte antigen (HLA) allele who was originally 
      diagnosed with T1D at 18 years of age. CASE REPORT: Patient A presented with 
      polyuria, polydipsia, and hypertension at the age of 18 years and was found to 
      have a blood glucose > 500 mg/dL (70-199 mg/dL) and an HbA1C (hemoglobin A1C) 
      >14% (4%-5.6%). She had an unmeasurable C-peptide but no urine ketones. She was 
      diagnosed with T1D and started on insulin therapy. Antibody testing was negative. 
      She required low doses of insulin and later had persistence of low but detectable 
      C-peptide. At the age of 35 years, she was found to have a protective HLA allele, 
      and genetic testing revealed a pathogenic mutation in the ABCC8 gene. The patient 
      was then successfully transitioned to sulfonylurea therapy. DISCUSSION: Monogenic 
      diabetes diagnosed in adolescence typically presents with mild to moderate 
      hyperglycemia, positive family history and, in some cases, other organ findings 
      or dysfunction. The patient in this report presented with very high blood 
      glucose, prompting the diagnosis of T1D. When she was found to have a protective 
      HLA allele, further investigation revealed the mutation in the sulfonylurea 
      receptor gene, ABCC8. CONCLUSION: Patients suspected of having T1D but with 
      atypical clinical characteristics such as negative autoantibodies, low insulin 
      requirements, and persistence of C-peptide should undergo genetic testing for 
      monogenic diabetes.
CI  - (c) 2023 AACE. Published by Elsevier Inc.
FAU - Grier, Alexandra E
AU  - Grier AE
AD  - Department of Pediatrics, St. Louis Children's Hospital, St. Louis, Missouri.
FAU - McGill, Janet B
AU  - McGill JB
AD  - Division of Endocrinology, Metabolism and Lipid Research, Washington University 
      School of Medicine, St. Louis, Missouri.
FAU - Lord, Sandra M
AU  - Lord SM
AD  - Diabetes Clinical Research Program and Center for Interventional Immunology, 
      Benaroya Research Institute at Virginia Mason, Seattle, Washington.
FAU - Speake, Cate
AU  - Speake C
AD  - Diabetes Clinical Research Program and Center for Interventional Immunology, 
      Benaroya Research Institute at Virginia Mason, Seattle, Washington.
FAU - Greenbaum, Carla
AU  - Greenbaum C
AD  - Diabetes Clinical Research Program and Center for Interventional Immunology, 
      Benaroya Research Institute at Virginia Mason, Seattle, Washington.
FAU - Chamberlain, Chester E
AU  - Chamberlain CE
AD  - Department of Medicine, Diabetes Center, University of California, San Francisco, 
      California.
AD  - Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, 
      University of California, San Francisco, California.
FAU - German, Michael S
AU  - German MS
AD  - Department of Medicine, Diabetes Center, University of California, San Francisco, 
      California.
AD  - Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, 
      University of California, San Francisco, California.
FAU - Anderson, Mark S
AU  - Anderson MS
AD  - Department of Medicine, Diabetes Center, University of California, San Francisco, 
      California.
FAU - Hirsch, Irl B
AU  - Hirsch IB
AD  - Division of Metabolism, Endocrinology, and Nutrition, Department of Medicine, 
      University of Washington School of Medicine, Seattle, Washington.
LA  - eng
GR  - P30 DK063720/DK/NIDDK NIH HHS/United States
PT  - Case Reports
DEP - 20230407
PL  - United States
TA  - AACE Clin Case Rep
JT  - AACE clinical case reports
JID - 101670593
PMC - PMC10382606
OTO - NOTNLM
OT  - ABCC8 mutation
OT  - adolescent
OT  - monogenic diabetes
OT  - type 1 diabetes
COIS- J.B.M. reports consulting for Bayer, Boehringer Ingelheim, Mannkind, and Thermo 
      Fisher and grant funding from Novo Nordisk and JDRF. M.S.A. owns stock in 
      Medtronic and Merck and is a consultant for Imcyse and Sana. The other authors 
      have no multiplicity of interest to disclose.
EDAT- 2023/07/31 06:42
MHDA- 2023/07/31 06:43
PMCR- 2023/04/07
CRDT- 2023/07/31 04:56
PHST- 2023/01/11 00:00 [received]
PHST- 2023/03/11 00:00 [revised]
PHST- 2023/04/03 00:00 [accepted]
PHST- 2023/07/31 06:43 [medline]
PHST- 2023/07/31 06:42 [pubmed]
PHST- 2023/07/31 04:56 [entrez]
PHST- 2023/04/07 00:00 [pmc-release]
AID - S2376-0605(23)00086-X [pii]
AID - 10.1016/j.aace.2023.04.001 [doi]
PST - epublish
SO  - AACE Clin Case Rep. 2023 Apr 7;9(4):101-103. doi: 10.1016/j.aace.2023.04.001. 
      eCollection 2023 Jul-Aug.