youth-onset type 2 diabetes; mature onset diabetes of the young (MODY)
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Epidemiology
- incidence on the rise
- from 1999 to 2008, prevalence of diabetes or prediabetes, measured by a single fasting blood glucose above the upper limit of normal, increased from 9% to 23%
Pathology
Genetics
- autosomal dominant inheritance[15]
- associated with defects in HNF4A (MODY1)[8]
- mutation in the gene for glucokinase (MODY2) (60%)[9]
- associated with defects in HNF1A (MODY3)[6]
- associated with defects in PDX1 (MODY4)[7]
- associated with defects in HNF1B (MODY5)[5]
- associated with defects in NEUROD1 (MODY6)[4]
- associated with defects in KLF11 (MODY7)[11]
- associated with defects in CEL (MODY8)[10]
- associated with defects in PAX4 (MODY9)[12]
- associated with defects in the insulin gene (MODY10)[13]
- associated with defects in BLK (MODY11)[14]
Clinical manifestations
- onset in childhood or early adulthood (10-45 years), usually before 25 years of age)
- strong family history or diabetes mellitus
- lean body type
- no acanthosis nigricans or features of Cushing syndrome
- major hyperglycemia associated with microvascular complications
Laboratory
Complications
- higher incidence of complications than type 1 diabetes
- diabetic nephropathy (RR=2.6), albuminuria moderate (55%)*
- diabetic retinopathy (RR=2.2), - mostly mild (50%)*
- diabetic neuropathy (RR=2.5), (32%)*
- obesity (mean BMI 36 kg/m2)*
- dsylipidemia (50%)*
- hypertension (67%)*
- myocardial infarction (4/700), stroke (4/700), heart failure (6/700)*
* 13 years since initial diagnosis, mean age 26 years[18]
Management
- dietary & lifestyle measures
- metformin is initial drug of choice
- addition of glitazone may be helpful
- long-acting insulin may be necessary in > 1/3 of patients[3]
More general terms
References
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 18 American College of Physicians, Philadelphia 1998, 2006, 2018.
- ↑ OMIM https://mirror.omim.org/entry/606391
- ↑ 3.0 3.1 TODAY Study Group A Clinical Trial to Maintain Glycemic Control in Youth with Type 2 Diabetes N Engl J Med, April 29, 2012 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/22540912 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1109333
Allen DB TODAY - A Stark Glimpse of Tomorrow N Engl J Med, April 29, 2012 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/22540913 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMe1204710 - ↑ 4.0 4.1 OMIM https://mirror.omim.org/entry/606394
- ↑ 5.0 5.1 OMIM https://mirror.omim.org/entry/137920
- ↑ 6.0 6.1 OMIM https://mirror.omim.org/entry/600496
- ↑ 7.0 7.1 OMIM https://mirror.omim.org/entry/606392
- ↑ 8.0 8.1 OMIM https://mirror.omim.org/entry/125850
- ↑ 9.0 9.1 OMIM https://mirror.omim.org/entry/125851
- ↑ 10.0 10.1 OMIM https://mirror.omim.org/entry/609812
- ↑ 11.0 11.1 OMIM https://mirror.omim.org/entry/610508
- ↑ 12.0 12.1 OMIM https://mirror.omim.org/entry/612225
- ↑ 13.0 13.1 OMIM https://mirror.omim.org/entry/613370
- ↑ 14.0 14.1 OMIM https://mirror.omim.org/entry/313375
- ↑ 15.0 15.1 OMIM https://mirror.omim.org/entry/606391
- ↑ May AL et al Prevalence of Cardiovascular Disease Risk Factors Among US Adolescents, 1999-2008 Pediatris, May 21, 2012 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/22586506 <Internet> http://pediatrics.aappublications.org/content/early/2012/05/15/peds.2011-1082.abstract
- ↑ Dabelea D, Stafford JM, Mayer-Davis EJ et al Association of Type 1 Diabetes vs Type 2 Diabetes Diagnosed During Childhood and Adolescence With Complications During Teenage Years and Young Adulthood. JAMA. 2017;317(8):825-835. Feb 28, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28245334 <Internet> http://jamanetwork.com/journals/jama/article-abstract/2606400
- ↑ 18.0 18.1 TODAY Study Group. Bjornstad P et al. Long-term complications in youth-onset type 2 diabetes. N Engl J Med 2021 Jul 29; 385:416. July 29 PMID: https://www.ncbi.nlm.nih.gov/pubmed/34320286 https://www.nejm.org/doi/10.1056/NEJMoa2100165
Patient information
mature onset diabetes of the young (MODY) patient information
Database
- OMIM: https://mirror.omim.org/entry/606391
- OMIM: https://mirror.omim.org/entry/125850
- OMIM: https://mirror.omim.org/entry/125851
- OMIM: https://mirror.omim.org/entry/606392
- OMIM: https://mirror.omim.org/entry/600496
- OMIM: https://mirror.omim.org/entry/137920
- OMIM: https://mirror.omim.org/entry/606394
- OMIM: https://mirror.omim.org/entry/609812
- OMIM: https://mirror.omim.org/entry/610508
- OMIM: https://mirror.omim.org/entry/612225
- OMIM: https://mirror.omim.org/entry/613370
- OMIM: https://mirror.omim.org/entry/313375