Presentation
Researchers from the Peninsula Medical School in United Kingdom, presented their findings at the 47th annual European Association for the Study of Diabetes (EASD) last week, and said that the test can help doctors pinpoint which children should undergo [typeonenation.org]
and as associated with type 1 diabetes, when two risk alleles were present. [journals.plos.org]
Musculoskeletal
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Long Arm
MODY 3 - due to mutations in the HNF1A (Hepatocyte Nuclear Factor-1-alpha) gene, located on the long arm of chromosome 12 (12q24.2). [ivami.com]
The transitory form, when associated with intrauterine growth restriction, macroglossia and umbilical and inguinal hernias, can be caused by abnormalities in the distal portions of the long arm of chromosome 6 (6q24). [scielo.br]
arm of chromosome 20 cosegregated with MODY. [care.diabetesjournals.org]
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Short Arm
MODY 7 - due to mutations in the gene KLF11, located on the short arm of chromosome 2 (2p25). [ivami.com]
Urogenital
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Polyuria
She was diagnosed with type 1 diabetes when she was 3 years old in view of her polyuria and slow growth. She had normal vaginal delivery without any complications. [endocrine-abstracts.org]
These include increased frequency of urination (polyuria), increased thirst (polydipsia), and weight loss. Mutations can occur spontaneously but usually are passed on from a parent to a child. [monogenicdiabetes.uchicago.edu]
CASE PRESENTATIONS Case 1 An 18-year-old female presented to her GP with 2 kg weight loss, mild polydipsia, and polyuria but otherwise well. Her fasting blood glucose of 12 mmol/L was diagnostic of diabetes (normal range 3.9–5.5 mmol/L). [bjgp.org]
This risk is likely outweighed by the benefits of reducing cardiovascular risk. [ 8 ] Presentation Patients with all types of diabetes may present with polyuria, polydipsia, lethargy, boils, pruritus vulvae or with frequent, recurrent or prolonged infections [patient.info]
Some forms of MODY produce significant hyperglycemia and the typical signs and symptoms of diabetes: increased thirst and urination (polydipsia and polyuria). [en.wikipedia.org]
Treatment
MODY has long been and still is under-reported, because it is frequently either not diagnosed or is misdiagnosed as type 1 or type 2 diabetes, with negative consequences on prognosis and treatment. [moh-it.pure.elsevier.com]
[br]We hypothesised that simple tests could define childhood diabetes phenotypes, allowing targeted treatment and genetic testing. [professional.diabetes.org]
Read about symptoms and treatment of type 2 diabetes Genes linked with Type 1 diabetes Type 1 diabetes is an autoimmune condition whereby the body’s immune system targets and kills off useful cells. [diabetes.co.uk]
Generally speaking, people with these types do not require treatment with insulin. [peoplewho.com]
After 1 year, he needed psychopharmacologic treatment, his BMI increased to 29.6 kg/m 2, and he required insulin. Subsequently, his psychopharmacologic treatment was changed, he lost weight, and he is now on diet only. [diabetes.diabetesjournals.org]
Prognosis
MODY has long been and still is under-reported, because it is frequently either not diagnosed or is misdiagnosed as type 1 or type 2 diabetes, with negative consequences on prognosis and treatment. [moh-it.pure.elsevier.com]
Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives. [endocrine-abstracts.org]
Genetic testing is relevant for treatment and prognosis in MODY patients. [thieme-connect.com]
Making a specific diagnosis of MODY can have important implications for the guidance of appropriate treatment, prognosis and genetic counselling. [jdmdonline.biomedcentral.com]
Patients with MODY 2 have the best prognosis because it causes milder hyperglycemia. They typically do not require any medication, and do not develop long-term complications. [drugs.com]
Etiology
A sizeable number of cases of diabetes are monogenic, and this must be borne in mind in the etiologic diagnosis of the disease. Maturity-onset diabetes of the young (MODY) is the most prevalent monogenic form. [moh-it.pure.elsevier.com]
Methods: Systematic clinical, biochemical characterization and HNF-1β mutational analysis were implemented to determine the diabetes etiology in four relatives. [endocrine-abstracts.org]
Clinical description The clinical features of MODY vary depending on the genetic etiology. The most frequent subtypes are HNF1A-MODY (30-50%), GCK-MODY (30-50%), HNF4A-MODY (10%), and HNF1B-MODY (1-5%). [orpha.net]
The aim of the present study was therefore to search for INS mutations in patients with MODY of unknown etiology as well as in selected patients from the Norwegian Childhood Diabetes Registry. [diabetes.diabetesjournals.org]
Epidemiology
Summary Epidemiology MODY is the most common form of monogenic diabetes. Prevalence is estimated to be about 1/10,000 in adults and 1/23,000 in children. No specific ethnic predilection has been reported. [orpha.net]
[…] understanding, current controversies and areas of future development and investigation, and is oriented around six key themes: Disease processes, including metabolism, physiology, and genetics Disease consequences, including morbidity, mortality, nutritional epidemiology [books.google.ro]
Community child health, public health, and epidemiology First UK survey of paediatric type 2 diabetes and MODY S Ehtisham 1, A T Hattersley 2, D B Dunger 3, T G Barrett 1, for the British Society for Paediatric Endocrinology and Diabetes Clinical Trials [adc.bmj.com]
Diabetes Epidemiology Research International Group. Geographic patterns of childhood insulin-dependent diabetes mellitus. Diabetes Epidemiology Research International Group. Diabetes. 1988 Aug. 37(8):1113-9. [Medline]. [emedicine.medscape.com]
Pathophysiology
Proc Natl Acad Sci U S A 104 : 15040 –15044, 2007 Fajans SS, Bell GI, Polonsky KS: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. [diabetes.diabetesjournals.org]
“Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.” N Engl J Med. 2001 Sep 27;345(13):971-80. Presentation: MODY 2 typically results in mildly elevated fasting blood sugar in the morning. [monogenicdiabetes.uchicago.edu]
We began our studies of MODY with the expectation that the identification of the genes responsible for MODY would provide insight into the genetics and pathophysiology of type 2 diabetes. [care.diabetesjournals.org]
CONCLUSIONS: Recognition of the primary pathophysiologic mechanism of the form of diabetes presented can guide specific treatment, optimizing metabolic control and minimizing complications over the long term. [scielo.br]
Prevention
New chapters cover stem cell therapy for type 1 diabetes; genetics and treatment of obesity; new therapies to promote insulin action; vasculopathy; islet cell protocols; triglycerides in muscle; hypoglycemia in the adult; and the Diabetes Prevention Program [books.google.de]
While JDRF did not fund this particular study, we continue to fund research to help understand the genetic causes of type 1 diabetes and how we may be able to prevent it. [typeonenation.org]
The gene PPAR-γ (PPAR-gamma) is involved in decreasing the inflammatory response in our blood vessels, and can help to prevent us from developing heart disease. [diabetes.co.uk]