Maturity-onset Diabetes Of The Young Type 5 In A Family With Diabetes And Mild Kidney Disease Diagnosed By Whole Exome Sequencing.
Abstract Exome sequencing is being increasingly used to identify disease-associated gene mutations. We used whole exome sequencing to determine the genetic basis of a syndrome of diabetes and renal disease affecting a mother and her son. We identified a mutation in the hepatocyte nuclear factor 1-b (HNF1B) gene that encoded a methionine to valine amino acid change (M160V) in the HNF1B protein. This leads us to the previously unappreciated diagnosis of maturity-onset diabetes of the young type 5 and provided a basis for genetic counselling of other family members. KEYWORDS: HNF1B; MODY5; glomerulocystic kidney disease; maturity-onset diabetes of the young; whole exome sequencing Continue reading >>
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Maturity Onset Diabetes Of Young Type 5
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. Case: 19 years old girl presented to A&E with hyperglycemia, ketosis, and acidosis. This was her second presentation in A&E in previous 3 weeks. 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. Her maternal grandmother had type 2 diabetes and no other family member was known to have diabetes. Her glycemic control had always been poor with HbA1c ranging between 10 and 15% (85–140 mmol/mol). She never developed diabetic ketoacidosis prior to these two episodes. She had been treated with twice daily pre-mixed insulin (30% short acting/70% intermediate acting insulin). She was supposed to be taking 34 units in the morning and 38 units in the evening. She had also received metformin in view of her large doses of insulin to improve insulin sensitivity. In past medical history she had her bilateral cataract surgery done at age 14 years. She was found to have urine ACR of 29 mg/mmol on this admission and C-peptide levels were 0.62 ng/ml (0.71–2.72 ng/ml). Her USS of kidneys showed multiple cysts. In view of her atypical presentation for type 1 diabetes and renal cysts she had her genetic analysis done which showed HNF1b mutation (heterozygous) consistent with MODY 5. She did not develop DKA earlier as MODY 5 patients do have some β cell function which gradually decline and hence she started developing DKA now when her β cell function had reduced significantly. Renal cysts are also a well-known feature of MODY5 however none of the previously reported cases in lit Continue reading >>
Diabetes Prevention: 5 Tips For Taking Control
Changing your lifestyle could be a big step toward diabetes prevention — and it's never too late to start. Consider these tips. When it comes to type 2 diabetes — the most common type of diabetes — prevention is a big deal. It's especially important to make diabetes prevention a priority if you're at increased risk of diabetes, such as if you're overweight or you have a family history of the disease. Diabetes prevention is as basic as eating more healthfully, becoming more physically active and losing a few extra pounds. It's never too late to start. Making a few simple changes in your lifestyle now may help you avoid the serious health complications of diabetes down the road, such as nerve, kidney and heart damage. Consider the latest diabetes prevention tips from the American Diabetes Association. 1. Get more physical activity There are many benefits to regular physical activity. Exercise can help you: Lose weight Lower your blood sugar Boost your sensitivity to insulin — which helps keep your blood sugar within a normal range Research shows that aerobic exercise and resistance training can help control diabetes. The greatest benefit comes from a fitness program that includes both. 2. Get plenty of fiber It's rough, it's tough — and it may help you: Reduce your risk of diabetes by improving your blood sugar control Lower your risk of heart disease Promote weight loss by helping you feel full Foods high in fiber include fruits, vegetables, beans, whole grains and nuts. 3. Go for whole grains It's not clear why, but whole grains may reduce your risk of diabetes and help maintain blood sugar levels. Try to make at least half your grains whole grains. Many foods made from whole grains come ready to eat, including various breads, pasta products and cereals. Look Continue reading >>
21-year-old Pregnant Woman With Mody-5 Diabetes
Copyright © 2017 Anastasia Mikuscheva et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract The term “Maturity-Onset Diabetes of the Young” (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies. Correct diagnosis of monogenic diabetes has implications on managing patients and their families. We are reporting a case of a 21-year-old pregnant woman with a bicornuate uterus, fetal renal anomalies, and a family history of diabetes that were suggestive of a MODY-5 diabetes. 1. Introduction Monogenic beta-cell diabetes is thought to be responsible for approximately 2% of all diabetes cases diagnosed before the age of 45 years . Approximately 80% of cases are misdiagnosed as either type 1 or type 2 diabetes, reflecting lack of physician awareness and/or access to genetic testing . Clues to the diagnosis of monogenic forms of diabetes include lack of typical characteristics of type 1 diabetes (no pancreatic autoantibodies, low or no insulin requirement five years after diagnosis, persistence of stimulated C-peptide of 4200 pmol/L, absence of diabetic ketoacidosis) or type 2 diabetes (lack of obesity, hypertension, dyslipidemia), in the presence of a strong family history . Renal cysts Continue reading >>
How Many Types Of Diabetes Are There?
This is a question that we get asked regularly. If we asked this question to the general population twenty years ago, a majority probably wouldn’t have any idea. But today, unfortunately, so many people have diabetes that everyone seems to at least have heard of type 1 and type 2. And—due to the rising rate of obesity in pregnant women—the public is becoming much more familiar with gestational diabetes. However, when you get to the details of this complex disease, things get less and less clear cut—not only how many types of diabetes there are, but also how they’re characterized. For example, type 1 is an autoimmune disease, and people require insulin at diagnosis. Usually the diagnosis is in childhood, adolescence or early adulthood, but not always (people can be diagnosed with type 1 at any age). Type 2 isn’t autoimmune, and it may take years before a person requires insulin, if at all—and patients are usually older and often overweight, but again this is a generality, particularly as the number of people who are obese grows and gets younger. Gestational diabetes occurs during pregnancy, and blood glucose returns to normal after delivery, but often it doesn’t. In addition, researchers have discovered another category of diabetes called latent autoimmune diabetes in adults (LADA). Think of LADA as a slowly progressing version of type 1 with some of the characteristics of type 2. In fact, some people call it type 1.5. People with LADA have antibodies to the disease like those with type 1 but they don’t need insulin right away. Their blood glucose can be controlled on lifestyle or oral agents for months or sometimes years. There’s more. Type 1, 2, gestational diabetes and LADA are polygenic—this means that it takes the involvement of many genes to c Continue reading >>
Do You Know The 5 Types Of Diabetes?
(BlackDoctor.org) — What is diabetes? Essentially, it’s a disorder where your body has problems producing or effectively using insulin, which can, in turn, cause many other mild to severe health problems. There are several different causes of insulin problems – managing your diabetes will depend on which type you have. Type 1 Diabetes: Little To No Insulin With type 1 diabetes, which used to be called juvenile diabetes, your body does not produce insulin or produces very little. Type 1 diabetes is known as an autoimmune disease because it occurs when your immune system mistakenly attacks the insulin-producing cells in your pancreas. Type 1 diabetes usually develops in children and young adults and accounts for 5 to 10 percent of diabetes cases in the United States. Symptoms may include thirst, frequent urination, increased hunger, unexplained weight loss, blurry vision, and fatigue. People who have type 1 diabetes need to take insulin injections daily to make up for what their pancreas can’t produce. Type 2 Diabetes: Insulin Resistance Type 2 diabetes, which used to be called adult-onset diabetes, is the most common form of diabetes, accounting for 90 to 95 percent of diabetes cases. While most people who develop type 2 diabetes are older, the prevalence of type 2 diabetes in children is on the rise. The exact cause of type 2 diabetes is largely unknown, but the disease tends to develop in people who are obese and physically inactive. People who have a family history of diabetes or a personal history of gestational diabetes are also at increased risk of developing type 2 diabetes. In addition, certain groups, particularly African Americans, have a higher risk of developing type 2 diabetes. Symptoms of type 2 diabetes usually develop gradually, and are similar to Continue reading >>
Type 5 Diabetes?
Researchers suggest there should be five diagnostic groups for diabetes, not just two. We often say that no two cases of Type 1 diabetes behave in the same way, and that each presents its own set of challenges. Diabetes presents itself differently depending on whether one was diagnosed in childhood or adulthood, and having both insulin resistance and Type 1 diabetes is more difficult to manage than just Type 1 diabetes alone. And then there are the diagnostic grey areas, including Latent Autoimmune Diabetes (LADA), Maturity Onset Diabetes of the Young (MODY), and what is sometimes characterized as brittle diabetes, all of which are difficult to diagnose properly. Swedish researchers now suggest that there should be five distinct diagnostic subgroups of diabetes, instead of the binary division between Type 1 diabetes and Type 2 diabetes. According to a report in Endocrinology Advisor, researchers at the Lund University Diabetes Centre made this recommendation after analyzing genetic and non-genetic markers for more than 15,000 patients with diabetes in Finland and Sweden. They then used five diagnostic yardsticks (age of onset, body mass index, A1C score, level of insulin secretion and how the insulin interacts in the bloodstream) to accurately predict changes in A1C scores over time in both people with Type 1 diabetes and people with Type 2 diabetes. From these experiments, the researchers now believe these should be the five different groups of people with diabetes: Those with what would be categorized as “typical” Type 1 diabetes from autoimmune reactions Those who have beta cell impairment caused by something other than autoimmune reaction Those who have the most insulin-resistance and highest risk of kidney disease Those who are the most obese Those with diabete Continue reading >>
What Are The Different Types Of Diabetes?
What are the different types of diabetes? Diabetes is a group of diseases in which the body either doesn’t produce enough or any insulin, does not properly use the insulin that is produced, or a combination of both. When any of these things happens, the body is unable to get sugar from the blood into the cells. That leads to high blood sugar levels. Glucose, the form of sugar found in your blood, is one of your chief energy sources. Lack of insulin or resistance to insulin causes sugar to build up in your blood. This can lead to many health problems. The three main types of diabetes are: type 1 diabetes type 2 diabetes gestational diabetes Type 1 diabetes Type 1 diabetes is believed to be an autoimmune condition. It happens when your immune system mistakenly attacks and destroys the beta cells in your pancreas that produce insulin. The damage is permanent. What prompts the attack isn’t clear. There may be both genetic and environmental components. Lifestyle factors aren’t thought to play a role. Type 2 diabetes Type 2 diabetes starts as insulin resistance. This means your body can’t use insulin efficiently. That stimulates your pancreas to produce more insulin until it can no longer keep up with demand. Insulin production decreases, which leads to high blood sugar. The exact cause is unknown. Contributing factors may include genetics, lack of exercise, and being overweight. There may also be other health factors and environmental reasons. Gestational diabetes Gestational diabetes is due to insulin blocking hormones produced during pregnancy. This type of diabetes only occurs during pregnancy. Learn more: What you should know about pregestational diabetes » General symptoms of diabetes include: excessive thirst and hunger frequent urination drowsiness or fatigue Continue reading >>
Type 1.5 Diabetes: An Overview
Type 1.5 Diabetes (T1.5D) is also known as Latent Autoimmune Diabetes of Adults (LADA). LADA is considered by some experts to be a slowly progressive form of Type 1 Diabetes (T1D) while other experts in the field consider it a separate form of Diabetes. LADA or T1.5D is sometimes thought of as T1D that is diagnosed in adults over the age of 30—T1D is commonly diagnosed in children and younger adults. T1.5D is often found along with Type 2 Diabetes (T2D): up to 25% of individuals with T1.5D also have characteristics of T2D.1 This is sometimes called “double diabetes”. Individuals with T1.5D are all eventually dependent on insulin for treatment, and have a very high risk of requiring insulin within months or years (up to six years) after the initial diagnosis. This is in contrast to people with T1D—these people tend to need insulin within days or weeks of diagnosis.2 Individuals diagnosed with T2D relatively rarely require insulin treatment. Current recommendations are to treat individuals with T1.5D immediately with insulin, though this is not universally accepted (see below). The Causes of T1.5D Just as with other forms of diabetes, we don’t truly understand the underlying cause(s) of T1.5D. There are autoimmune components in Types 1, 1.5 and 2 diabetes with some overlap in the types of antibodies formed, so it is clear that as in T1D, the immune system has become “confused” and begins to act against the beta cells of the pancreas—the source of the insulin needed to control blood sugars. Both T1D and T1.5D have antibodies to glutamic acid decarboxylase or anti-GAD antibodies. As with T1D, individuals with T1.5D tend not to be obese, whereas in T2D, most individuals are overweight or obese. Genetics and Environmental Susceptibility Individuals with T1.5D Continue reading >>
Other Types Of Diabetes
MODY accounts for less than 5% of individuals diagnosed with diabetes. Maturity Onset Diabetes Of the Young is diagnosed early in life and has no autoimmune basis. Other is a “catch all” category that refers to other specific and unusual forms of diabetes. Traditional examples are single genetic defects (also known as Maturity Onset Diabetes Of the Young or MODY), cystic fibrosis, hemochromatosis, surgical causes and drug causes. Currently, MODY accounts for less than 5% of individuals diagnosed with diabetes. If you have MODY, characteristically three or more generations and multiple family members have diabetes. Also the diabetes is diagnosed early in life and has no autoimmune basis. Some forms of MODY can be treated with diet alone, while other forms of MODY require pills or insulin therapy. With increased research into the genetic causes of diabetes, and the availability of the diagnostic tests, the diagnosis of families’ who have a single genetic defect or MODY will increase. See our Classification Table for a more comprehensive list of other unusual forms of diabetes. Self-assessment Quiz Self assessment quizzes are available for topics covered in this website. To find out how much you have learned about Facts about Diabetes, take our self assessment quiz when you have completed this section. The quiz is multiple choice. Please choose the single best answer to each question. At the end of the quiz, your score will display. If your score is over 70% correct, you are doing very well. If your score is less than 70%, you can return to this section and review the information. Continue reading >>
Phosphodiesterase Type-5 Inhibitor Use In Type 2 Diabetes Is Associated With A Reduction In All-cause Mortality
Erectile dysfunction (ED) is increasingly recognised as an early marker of cardiovascular disease (CVD).1 The association of ED with CVD increases in the presence of type 2 diabetes,2 ,3 and up to a third of those with ED have a comorbid condition including hypertension,4 peripheral vascular disease (PVD), obesity,5 smoking or dyslipidaemia.6 ,7 Phosphodiesterase type-5 inhibitors (PDE5is) are considered the first-line therapy for treatment of ED8 and, since their introduction in 1998, concern for their use has diminished in high-risk patients with CVD. In fact, PDE5is have been shown to confer systemic vascular benefits against the development of major adverse cardiac events.9 This is supported by compelling evidence from animal models indicating that the PDE5is such as sildenafil, tadalafil and vardenafil are cardioprotective in ischaemia-reperfusion injury (IRI) while suppressing cardiac arrhythmias and improving cardiac function.10–15 Furthermore, small randomised controlled trials (RCTs) in systolic heart failure have shown an improvement in haemodynamic parameters and functional indices.16 It is therefore important to establish whether there is benefit or harm in high-risk patients with ED. Over the past decade, PDE5is have attained a proven safety profile, with no evidence of harm due to acute myocardial infarction (AMI) or sudden cardiac death,17 and data from clinical trials indicate a relatively low incidence of cardiovascular adverse events compared with placebo-treated patients, with no increase in cardiac mortality compared with mortality rates in age-standardised male populations.18 ,19 There are, however, no definitive long-term prospective data on the impact of PDE5is on mortality. Meta-analyses of randomised, placebo-controlled trials to evaluate the Continue reading >>
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Types Of Diabetes
The Centers for Disease Control reports over 29 million people, fewer than 10 percent of the U.S. population, have diabetes. It’s also estimated that of those, 8.1 million people are undiagnosed. In the past, there generally were only two known types of diabetes — juvenile (now known as Type 1), which is most often diagnosed in children, and Type 2, more commonly diagnosed in adults. Today, there are more categories of diabetes, including prediabetes, Type 1, Type 2, MODY, LADA and gestational. Prediabetes, formerly called borderline diabetes, is a condition in which blood sugars are higher than normal, but not high enough for an official diagnosis of Type 2 diabetes. Type 2 can develop if no lifestyle changes are made, such as maintaining a healthy weight, eating healthy and doing daily physical activity. With modifications, it is possible for some people to prevent prediabetes from developing into Type 2 diabetes. Type 1 occurs in only 5 percent of all people with diabetes. It has a rapid onset and is considered an autoimmune condition, meaning the immune system mistakenly destroys the cells in the pancreas responsible for making insulin. When most of these cells are destroyed, the body no longer can make insulin. Insulin is a hormone the body needs to move glucose from the bloodstream into the cells of the body. Those who have been diagnosed with Type 1 diabetes must take insulin to stay alive. People living with Type 1 diabetes also need to have an understanding of the body and how physical activity, mood, stress and different foods can affect blood sugars. No one is exactly sure what causes Type 1 diabetes, but it is not caused by eating sugar. Type 2 is the most common form of diabetes and is a disorder of insulin resistance. The cells do not use insulin effic Continue reading >>
C-reactive Protein And 5-year Survival In Type 2 Diabetes
The Casale Monferrato Study Abstract OBJECTIVE To determine to what extent plasma C-reactive protein (CRP) values influence 5-year all-cause and cardiovascular mortality in type 2 diabetic individuals, independently of albumin excretion rate (AER) and other cardiovascular risk factors, and its incremental usefulness for predicting individual risk of mortality. RESEARCH DESIGN AND METHODS Measurements of CRP were performed in 2,381 of 3,249 (73.3%) subjects as part of the population-based Casale Monferrato Study. Its association with 5-year all-cause and cardiovascular mortality was assessed with multivariate Cox proportional hazards modeling. The C statistic and measures of calibration and global fit were also assessed. RESULTS Results are based on 496 deaths in 11.717 person-years of observations (median follow-up 5.4 years). With respect to subjects with CRP ≤3 mg/l, those with higher values had an adjusted hazard ratio (HR) of 1.51 (95% CI 1.18–1.92) for all-cause mortality and 1.44 (0.99–2.08) for cardiovascular mortality. In normoalbuminuric subjects, respective HRs of CRP were 1.56 (1.13–2.15) and 1.65 (1.00–2.74), AER being neither a modifier nor a confounder of CRP association. In analysis limited to diabetic subjects without cardiovascular disease (CVD), adjusted HRs were 1.67 (1.24–2.24) for all-cause mortality and 1.36 (0.83–2.24) for cardiovascular mortality. The improvement in individual risk assessment was marginal when measured with various statistical measures of model discrimination, calibration, and global fit. CONCLUSIONS CRP measurement is independently associated with short-term mortality risk in type 2 diabetic individuals, even in normoalbuminuric subjects and in those without a previous diagnosis of CVD. Its clinical usefulness in i Continue reading >>
Type 1 Diabetes
Type 1 diabetes is the type of diabetes that typically develops in children and in young adults. In type 1 diabetes the body stops making insulin and the blood sugar (glucose) level goes very high. Treatment to control the blood glucose level is with insulin injections and a healthy diet. Other treatments aim to reduce the risk of complications. They include reducing blood pressure if it is high and advice to lead a healthy lifestyle. What is type 1 diabetes? What is type 1 diabetes? Play VideoPlayMute0:00/0:00Loaded: 0%Progress: 0%Stream TypeLIVE0:00Playback Rate1xChapters Chapters Descriptions descriptions off, selected Subtitles undefined settings, opens undefined settings dialog captions and subtitles off, selected Audio TrackFullscreen This is a modal window. Beginning of dialog window. Escape will cancel and close the window. TextColorWhiteBlackRedGreenBlueYellowMagentaCyanTransparencyOpaqueSemi-TransparentBackgroundColorBlackWhiteRedGreenBlueYellowMagentaCyanTransparencyOpaqueSemi-TransparentTransparentWindowColorBlackWhiteRedGreenBlueYellowMagentaCyanTransparencyTransparentSemi-TransparentOpaqueFont Size50%75%100%125%150%175%200%300%400%Text Edge StyleNoneRaisedDepressedUniformDropshadowFont FamilyProportional Sans-SerifMonospace Sans-SerifProportional SerifMonospace SerifCasualScriptSmall CapsReset restore all settings to the default valuesDoneClose Modal Dialog End of dialog window. Diabetes mellitus (just called diabetes from now on) occurs when the level of sugar (glucose) in the blood becomes higher than normal. There are two main types of diabetes. These are called type 1 diabetes and type 2 diabetes. Type 1 diabetes usually first develops in children or young adults. In the UK about 1 in 300 people develop type 1 diabetes at some stage. With type 1 diabet Continue reading >>
Type 1 Diabetes Diet
Type 1 diabetes diet definition and facts In Type 1 diabetes the pancreas can do longer release insulin. The high blood sugar that results can lead to complications such as kidney, nerve, and eye damage, and cardiovascular disease. Glycemic index and glycemic load are scientific terms used to measure he impact of a food on blood sugar. Foods with low glycemic load (index) raise blood sugar modestly, and thus are better choices for people with diabetes. Meal timing is very important for people with type 1 diabetes. Meals must match insulin doses. Eating meals with a low glycemic load (index) makes meal timing easier. Low glycemic load meals raise blood sugar slowly and steadily, leaving plenty of time for the body (or the injected insulin dose) to respond. Skipping a meal or eating late puts a person at risk for low blood sugar (hypoglycemia). Foods to eat for a type 1 diabetic diet include complex carbohydrates such as brown rice, whole wheat, quinoa, oatmeal, fruits, vegetables, beans, and lentils. Foods to avoid for a type 1 diabetes diet include sodas (both diet and regular), simple carbohydrates - processed/refined sugars (white bread, pastries, chips, cookies, pastas), trans fats (anything with the word hydrogenated on the label), and high-fat animal products. Fats don't have much of a direct effect on blood sugar but they can be useful in slowing the absorption of carbohydrates. Protein provides steady energy with little effect on blood sugar. It keeps blood sugar stable, and can help with sugar cravings and feeling full after eating. Protein-packed foods to include on your menu are beans, legumes, eggs, seafood, dairy, peas, tofu, and lean meats and poultry. The Mediterranean diet plan is often recommended for people with type 1 diabetes because it is full of nut Continue reading >>