Presentation
HNF1A-MODY patients usually present with polyuria, polydipsia, and glucosuria (1, 3). [edm.bioscientifica.com]
Background: I present a young girl with maturity onset diabetes of young type 5 (MODY 5) who presented with renal cysts and early onset bilateral cataracts with gradual decline of beta cell functions. [endocrine-abstracts.org]
MODY was arranged at presentation of diabetes are described. [bjgp.org]
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 [jdrf.org]
We present the cases of three children and their families diagnosed with MODY over the past two years. [jdmdonline.biomedcentral.com]
Entire Body System
- Short Stature
Its principal characteristics are polydactyly, centripetal obesity, mental retardation, hypogonadism, retinal dystrophy, renal anomalies, short stature, speech disorders and dental anomalies. [scielo.br]
stature, and hypogonadism associated with DM Nondiabetic glycosuria Renal glycosuria - Glucose appears in urine despite normal glucose concentration in blood; this may occur because of an autosomal genetic disorder or dysfunction of the proximal renal [emedicine.medscape.com]
Gastrointestinal
- Polydipsia
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]
HNF1A-MODY patients usually present with polyuria, polydipsia, and glucosuria (1, 3). [edm.bioscientifica.com]
Early signs and symptoms in these types are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. [medlineplus.gov]
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]
Urogenital
- Polyuria
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]
HNF1A-MODY patients usually present with polyuria, polydipsia, and glucosuria (1, 3). [edm.bioscientifica.com]
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]
Early signs and symptoms in these types are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. [medlineplus.gov]
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]
Workup
Urine
- Glycosuria
< 0.5/u/kg/d) gestational diabetes cystic kidney disease in the patient or close relative positive glucose tolerance test renal glycosuria type 2 diabetes or metabolic syndrome has been ruled out The various forms of MODY diabetes have been classified [medical-genetics.de]
It is worth being aware that those with MODY 3 tend to have glycosuria at quite normal blood sugar levels and can develop kidney disease before a diagnosis of diabetes is finally made. [newcastle-hospitals.nhs.uk]
Case presentation A 32-year-old woman was noted to have glycosuria and was diagnosed with gestational diabetes at 19 weeks during her third pregnancy, in 1997. [edm.bioscientifica.com]
- Ketonuria
Patients with type 1 diabetes may also present with weight loss, dehydration, ketonuria and hyperventilation. Presentation of type 1 diabetes tends to be acute with a short duration of symptoms. [patient.info]
Six children had ketonuria at presentation. One patient had positive GAD (glutamic acid decarboxylase) antibodies and another had transiently raised autoantibodies (type not recorded). [adc.bmj.com]
[…] is very important, and there are generally several members of the family affected in different generations. 5 Children with type 2 DM tend to exhibit milder degrees of hyperglycemia, more elevated levels of insulin and C-peptide and lower levels of ketonuria [scielo.br]
- Microalbuminuria
Diabetic children from a group of Pima Indians in North America exhibited a high prevalence of risk factors for cardiovascular disease, such as severe obesity (85%), hypercholesterolemia (7%), arterial hypertension (18%) and microalbuminuria (22%). 3 [scielo.br]
Long-term Renal Outcomes of Patients With Type 1 Diabetes Mellitus and Microalbuminuria: An Analysis of the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Cohort. [emedicine.medscape.com]
Treatment
Transplantation 765 65 Treatment of Diabetes in the Hospitalized Patient 1103 66 The Diabetic Foot Strategies for Treatment 1111 BIOLOGY OF THE COMPLICATIONS OF DIABETES 793 67 Vascular Disease of the Lower Extremities 1123 Cameron M Akbari and Frank [books.google.ro]
Patients with HNF1A-MODY respond well to low-dose sulfonylurea treatment, which can increase glucose-induced insulin secretion (3, 4). [edm.bioscientifica.com]
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]
Conclusion The DPV registry enabled us to precisely characterize phenotype and treatment in these two rare MODY types. [academic.oup.com]
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]
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]
Recent evidence has shown that type 2 DM does not have a favorable prognosis, causing an enormous physical, psychological, economic and social impact. [scielo.br]
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]
Introduction Diabetes mellitus (DM) is a metabolic disease of multiple etiologies. [scielo.br]
Epidemiology
[…] 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]
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]
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]
Epidemiology and Genetics MODY accounts for approximately 1% to 5% of diabetes cases.1 It is most often an autosomal dominant disease, with 50% of offspring affected. [aafp.org]
Pathophysiology
Sulfonylureas are the preferred pharmacologic therapy based on pathophysiologic reasoning, although clinical trials are lacking. [aafp.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
Published on behalf of The British Dietetic Association, Advanced Nutrition and Dietetics in Diabetes is an exploration of the evidence and practice of nutrition in diabetes, offering a global view of the lifestyle interventions for the prevention and [books.google.ro]
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]
Screening for type 2 diabetes mellitus to prevent vascular complications: updated recommendations from the Canadian Task Force on Preventive Health Care. CMAJ. 2005;172(2):177–180. 34. U.S. Preventive Services Task Force. [aafp.org]
Screening can detect diabetic retinopathy early, when treatment is effective at reducing or preventing damage from the condition. Most people have heard of Type 1 and Type 2 diabetes. [phescreening.blog.gov.uk]
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. [jdrf.org]