Ketosis Prone Diabetes Wiki

Handbook Of Genetic Counseling/diabetes Mellitus

Diabetes Mellitus Diabetes mellitus is characterized by hyperglycemia and relative or absolute deficiency of insulin. It is one of the most common chronic disorders, affecting 5-10% of the adult population in the western hemisphere. There are two types of diabetes. Type 1 is insulin-dependent diabetes mellitus (IDDM) and represents about 10% of all cases. It results from the destruction of the Beta cells of the pancreas, which is an auto-immune process. Type 2 is non-insulin-dependent diabetes mellitus (NIDDM) and represents around 90% of the cases. It has a poorly defined pathogenesis, but may cause resistance due to a decrease in insulin receptors and interact with outside factors such as obesity. Inheritance: the genetics of diabetes mellitus is complex, with multifactorial inheritance indicating an interaction of both genetic and environmental factors. The disease itself is not inherited; rather it is a susceptibility to the disease. (Type 2 has a greater genetic component.) Risk factors: family history, obesity, lack of exercise, age over 30. Ethnic backgrounds of African American, Latino, Native American, and Asian have twice the risk for developing diabetes than Caucasians. Type 1 (IDDM) has an incidence of about 1 in 200 Caucasians and usually manifests early in life. Risk to sibling is 6% and risk to offspring is 2.5%. The male gender may have an influence on predisposition. Type 2 (NIDDM) has a recurrence risk to siblings and offspring for over disease of 5-10%, while there is a recurrence risk for abnormal glucose tolerance of 15-25%. Diabetes mellitus frequently accompanies the symptoms of Fredriech's Ataxia. This appears to be the case in this family. Therefore, Mr. and Mrs. R's offspring may be at a lower risk. In both types, insulin deficiency leads to hy Continue reading >>

Syndromes Of Ketosis-prone Diabetes Mellitus

INTRODUCTION Since the mid-1990s, increasing attention has been focused on a heterogeneous condition characterized by presentation with diabetic ketoacidosis (DKA) in patients who do not necessarily fit the typical characteristics of autoimmune type 1 diabetes. Earlier reports used the terms "atypical diabetes," "Flatbush diabetes," "diabetes type 1B," and "ketosis-prone type 2 diabetes mellitus" to describe subsets of this condition, and it was noted that in some instances patients presented with DKA as the first manifestation of diabetes and evolved to insulin independence [1]. While initially these reports suggested that the condition, now termed ketosis-prone diabetes (KPD), might be limited to persons of non-Caucasian ethnicity, its prevalence appears to be increasing in a wide range of ethnic groups worldwide [2-5]. The classification, pathophysiology, natural history, and management of KPD will be reviewed here. Patients with islet autoantibodies who do not present with ketosis, including those termed "latent autoimmune diabetes in adults" (LADA), "type 1.5 diabetes" [6,7], and "slowly progressing type 1 diabetes" [8] are discussed elsewhere. (See "Classification of diabetes mellitus and genetic diabetic syndromes".) CLASSIFICATION OF KPD The goal of new classification schemes is to enable clinicians to predict which patients with diabetic ketoacidosis (DKA) require temporary insulin treatment versus life-long insulin therapy. They also highlight subgroups for genetic and pathogenetic studies. Ketosis-prone diabetes (KPD) comprises a group of diabetes syndromes characterized by severe beta cell dysfunction (manifested by presentation with DKA or unprovoked ketosis) and a variable clinical course. These syndromes do not fit the traditional categories of diabetes d Continue reading >>

Syndromes Of Ketosis-prone Diabetes Mellitus

Syndromes of Ketosis-Prone Diabetes Mellitus Ashok Balasubramanyam , Ramaswami Nalini , Christiane S. Hampe , and Mario Maldonado Translational Metabolism Unit (A.B., R.N., M.M.), Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston, Texas 77030; Endocrine Service (A.B., R.N.), Ben Taub General Hospital, Houston, Texas 77030; Robert H. Williams Laboratory (C.S.H.), University of Washington, Seattle, Washington 98195; and Novartis, Inc. (M.M.), CH-4002 Basel, Switzerland Address all correspondence and requests for reprints to: Ashok Balasubramanyam, M.D., Translational Metabolism Unit, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Room 700B, One Baylor Plaza, Houston, Texas 77030. E-mail: [email protected] Received 2007 Aug 13; Accepted 2008 Jan 9. Copyright 2008 by The Endocrine Society This article has been cited by other articles in PMC. Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of -cell dysfunction appear to underlie the pathophysiology of KPD. Until recently, the syndrome has lacked an accurate, clinically relevant and etiologically useful classification scheme. We have utilized a large, longitudinally followed, heterogeneous, multiethnic cohort of KPD patients to identify four clinically and pathophysiologically distinct subgroups that are separable by the presence or absence of -cell autoimmunity and the presence or absence of -cell functional reserve. The resulting A classification system of KPD has proven to be highly accurate and predictive of such clinically importan Continue reading >>

Ketosis-prone Diabetes

Ketosis-prone diabetes or KPD is an intermediate form of diabetes that has some characteristics of type 1 and some of type 2 diabetes. However, it is distinct from latent autoimmune diabetes , a form of type 1 sometimes referred to as type 1.5. [1] KPD is readily diagnosible because it presents a single characteristic, ketoacidosis, which if present, confirms it as ketosis-prone diabetes. [2] KPD comes in four forms depending upon the presence or absence of -cell autoantibodies (A+ or A) and -cell functional reserve (+ or ). [3] ^ There is clearly a spectrum of clinical phenotypes among patients with islet autoantibodies who do not present with ketosis, including those termed latent autoimmune diabetes in adults (LADA) (30), type 1.5 diabetes (31,32,33), and slowly progressing type 1 diabetes (34). A similar spectrum exists in KPD that includes the very different phenotypes of A+ and A++ KPD. A+ KPD is synonymous with classic, early onset autoimmune type 1 diabetes; A++ KPD may overlap with LADA. However, there are differences between LADA, as recently defined by the Immunology of Diabetes Society, and A++ KPD patients; most importantly, the definition of LADA excludes patients who require insulin within the first 6 months after diagnosis, whereas the majority (90%) of A++ KPD patients present with DKA as the first manifestation of diabetes and therefore require insulin at the start. Continue reading >>

Ketoacidosis

Ketones in the urine or blood, as detected by urine testing stix or a blood ketone testing meter, [1] may indicate the beginning of diabetic ketoacidosis (DKA), a dangerous and often quickly fatal condition caused by low insulin levels [2] combined with certain other systemic stresses. DKA can be fixed if caught quickly. Because of the hyperglycemia Cushing's disease creates, it's possible (but not frequent) to find ketones in the urine. [3] The three ketone bodies are acetone, acetoacetic acid, and beta-hydroxybutyric acid, with the predominating ketone body formed being beta-hydroxybutyrate acid. [4] Though they are referred to as "bodies" this is a misnomer as they are dissolved substances. [5][6] Ketones are produced by the liver as part of fat metabolism and are normally not found in sufficient quantity to be able to be measured in urine or blood (non-diabetics or well-controlled diabetics). [7] Since the body is set up to normally burn glucose as its fuel, when glucose isn't available as an energy source, (untreated/poorly treated diabetes and some other unrelated medical conditions), it begins to burn fat for energy instead. The result of the body turning to burning fat instead of glucose means more ketone production which is able to be measured when testing either urine or blood for them. [4][6] Diabetics of all species therefore need to be checked for ketones with urine testing stix, available at any pharmacy, whenever insulin level may be too low, and any of the following signs or triggers are present: Note that the triggers and signs are somewhat interchangeable because ketoacidosis is, once begun, a set of vicious circles which will make itself worse. So dehydration, hyperglycemia, fasting, and presence of ketones are not only signs, they're also sometimes t Continue reading >>

Omim Entry - # 612227 - Diabetes Mellitus, Ketosis-prone; Kpd

A number sign (#) is used with this entry because of evidence that susceptibility to ketosis-prone diabetes mellitus is conferred by homozygous mutation in the PAX4 gene ( 167413 ) on chromosome 7q32. One patient has been found to be heterozygous for mutation in PAX4. In addition to classic type 1 (see 222100 ) and type 2 (see 125853 ) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable ( Sobngwi et al., 2002 ). Maldonado et al. (2003) studied 103 patients with diabetic ketoacidosis (DKA), classifying them into 4 groups according to the presence or absence of autoimmune markers for type 1 diabetes (A+ or A-) and the presence or absence of beta-cell functional reserve (beta+ or beta-). There were 18 patients in the A+beta- group, 23 in the A-beta- group, 11 in the A+beta+ group, and 51 in the A-beta+ group. Collectively, the 2 beta- groups differed from the 2 beta+ groups in earlier onset and longer duration of diabetes, lower body mass index (BMI), less glycemic improvement, and persistent insulin requirement. HLA class II genotyping showed Continue reading >>

Ketosis-prone Type 2 Diabetes

The original schema for classifying diabetes mellitus (DM) consisted of 2 categories known as type 1 diabetes mellitus and type 2 diabetes mellitus . Type 1 diabetes was also known as insulin-dependent diabetes. Patients with this type of diabetes were considered prone to develop diabetic ketoacidosis (DKA) . Patients with type 1 diabetes were found to have an absolute insulin deficiency due to autoimmune destruction of pancreatic beta cells. Patients with type 2 diabetics, or noninsulin-dependent diabetes, were not considered to be at risk for DKA. Type 2 diabetes is strongly associated with obesity and a family history of diabetes. These patients have peripheral insulin resistance with initially normal or elevated circulating levels of endogenous insulin. Since the mid-1990s, the number of patients who presented with DKA but did not require long-term insulin therapy has increased. Many such patients had conditions that resembled traditionally defined type 2 diabetes, in that they were obese and often had a family history of diabetes. Subsequent to these observations, new ways to classify diabetes were devised. The system of classification that most accurately predicts the need for insulin treatment 12 months after presentation with DKA is known as the A system. This system classifies diabetics into 4 groups as follows: A+- - Autoantibodies present, cell function absent A++ - Autoantibodies present, cell function present A-- - Autoantibodies absent, cell function absent A-+ - Autoantibodies absent, cell function present The commonest ketosis-prone diabetes (KPD) subgroup in a longitudinal study was A-+ (54%), followed by A-- (20%) A+- (18%) and A++ (8%). [ 1 ] As noted above, in the A-+ subgroup of patients with KPD cell antibodies are absent and cell function is pres Continue reading >>

Hyperkalemia, Ketosis, Diabetic Nephropathy: Causes & Diagnoses | Symptoma.com

Hyperkalemia (confirmed with repeat measurement and electrocardiogram) and renal insufficiency are contraindications to potassium infusion. [spectrum.diabetesjournals.org] Patients seldom develop ketosis but often exhibit obesity. [icd10data.com] People with diabetes are 17 times more prone to kidney disease, with diabetic nephropathy being the most common complication [ 11 World Health Organization (WHO). [em-consulte.com] Safety outcomes included mortality, hyperkalemia, and acute kidney injury. [nejm.org] . nephropathy [ n-frop ah-the ] 1. any disease of the kidneys. adj., adj nephropath ic. 2. any disease of the kidneys; see also nephritis . [medical-dictionary.thefreedictionary.com] These medications should be stopped if hyperkalemia is pronounced. [aafp.org] Medscape Education Diabetes & Endocrinology , March 2018 Managing Patients on RAAS Inhibitors CME / ABIM MOC / CE Clinical Case Challenges for Managing Hyperkalemia in Patients [medscape.org] When the kidney is no longer able to handle the excess ketones the patient develops ketosis. [medical-dictionary.thefreedictionary.com] [] to unhealthy lipid levels , damage to blood vessels (vascular and microvascular), organ damage such as to the kidneys (diabetic nephropathy), and nerve damage (diabetic neuropathy [labtestsonline.org] Correction of hyperkalemia leads to correction of metabolic acidosis in many patients, pointing to the central role of hyperkalemia in the pathogenesis of this acidosis. [emedicine.medscape.com] [] that is marked by sickly sweet breath, headache, nausea and vomiting, and visual disturbances and is usually a result of excessive acid production compare alkalosis , ketosis [merriam-webster.com] [] metabolic acidosis plasma HCO3 usually 15mmol/L hyperkalaemia References and Links Lifienthefa Continue reading >>

Diabetic Ketoacidosis

Dehydration may be severe in diabetic ketoacidosis, and intravenous fluids are usually needed as part of its treatment Diabetic ketoacidosis (DKA) is a potentially life-threatening complication of diabetes mellitus . Symptoms may include vomiting , abdominal pain , deep gasping breathing , increased urination , weakness, confusion , and occasionally loss of consciousness . A person's breath may develop a specific smell. Onset of symptoms is usually rapid. In some cases people may not realize they previously had diabetes. [1] DKA happens most often in those with type 1 diabetes , but can also occur in those with other types of diabetes under certain circumstances. Triggers may include infection , not taking insulin correctly, stroke , and certain medications such as steroids . [1] DKA results from a shortage of insulin; in response the body switches to burning fatty acids which produces acidic ketone bodies . [2] DKA is typically diagnosed when testing finds high blood sugar , low blood pH , and ketoacids in either the blood or urine. [1] The primary treatment of DKA is with intravenous fluids and insulin. [1] Depending on the severity, insulin may be given intravenously or by injection under the skin . [2] Usually potassium is also needed to prevent the development of low blood potassium . Throughout treatment blood sugar and potassium levels should be regularly checked. [1] Antibiotics may be required in those with an underlying infection. [3] In those with severely low blood pH, sodium bicarbonate may be given; however, its use is of unclear benefit and typically not recommended. [1] [3] Rates of DKA vary around the world. [4] About 4% of people with type 1 diabetes in United Kingdom develop DKA a year while in Malaysia the condition affects about 25% a year. [1] [4] Continue reading >>

Ketosis-prone Diabetes

Does presenting with diabetic ketoacidosis (DKA) mandate indefinite insulin treatment? Not always. Since the mid-1990s, weve increasingly observed and recognized patients that dont neatly fit into either type 1 diabetes (T1DM) or T2DM. Ketosis-prone type 2 diabetes mellitus (KPDM) is underrecognized and distinctive. First described by Winter and colleagues in 1987, 12 African-American patients initially presented with DKA, but their disease course unfolded more like that of an individual with T2DM.1 KPDM was initially thought to be a variant of maturity onset diabetes of the young (MODY). Other names include Flatbush diabetes (named for the part of Brooklyn, NY where young African-Americans were described to have these clinical features of KPDM), type 1.5 diabetes, and atypical diabetes. 1. A large number of KPDM patients present without a previous diagnosis of DM and without a known precipitating cause for the DKA. >75% of KPDM patients fit this description. Most patients are African-American or Hispanic, overweight or obese, male (theres a two- to three-fold greater prevalence in men compared with women), in their 40s or 50s at the time of diagnosis. 2. If the patients insulin requirements rapidly decline in the first several weeks after presenting, think of possible KPDM. i. Patients test pre-meal glucose at least 2 times/day, and check in with their health care professional team every 2 weeks for the first 2 months after being discharged from the hospital to titrate insulin, and subsequently every 2 or 3 months, as extent of control warrants. ii.Clinicians begin tapering insulin by 25% at each visit, once fasting glucose declines below 130 mg/dL for 2 weeks, or if the patient develops hypoglycemia. 3. Many patients with KPDM will spontaneously remit. Most patients Continue reading >>

Syndromes Of Ketosis-prone Diabetes Mellitus

N2 - Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of -cell dysfunction appear to underlie the pathophysiology of KPD. Until recently, the syndrome has lacked an accurate, clinically relevant and etiologically useful classification scheme. We have utilized a large, longitudinally followed, heterogeneous, multiethnic cohort of KPD patients to identify four clinically and pathophysiologically distinct subgroups that are separable by the presence or absence of -cell autoimmunity and the presence or absence of -cell functional reserve. The resulting "A" classification system of KPD has proven to be highly accurate and predictive of such clinically important outcomes as glycemic control and insulin dependence, as well as an aid to biochemical and molecular investigations into novel causes of -cell dysfunction. In this review, we describe the current state of knowledge in regard to the natural history, pathophysiology, and treatment of the subgroups of KPD, with an emphasis on recent advances in understanding their immunological and genetic bases. Copyright 2008 by The Endocrine Society. AB - Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome characterized by patients who present with diabetic ketoacidosis or unprovoked ketosis but do not necessarily have the typical phenotype of autoimmune type 1 diabetes. Multiple, severe forms of -cell dysfunction appear to underlie the pathophysiology of KPD. Until recently, the syndrome has lacked an accurate, clinically relevant and etiologically useful classification scheme. We have util Continue reading >>

Ketosis-prone Diabetes - Definition Of Ketosis-prone Diabetes By The Free Dictionary

Ketosis-prone diabetes - definition of ketosis-prone diabetes by The Free Dictionary Also found in: Thesaurus , Medical , Wikipedia . ThesaurusAntonymsRelated WordsSynonymsLegend: ketosis-prone diabetes - severe diabetes mellitus with an early onset; characterized by polyuria and excessive thirst and increased appetite and weight loss and episodic ketoacidosis; diet and insulin injections are required to control the disease autoimmune diabetes , growth-onset diabetes , IDDM , insulin-dependent diabetes mellitus , juvenile diabetes , juvenile-onset diabetes , ketoacidosis-prone diabetes , type I diabetes diabetic acidosis , ketoacidosis - acidosis with an accumulation of ketone bodies; occurs primarily in diabetes mellitus diabetes mellitus , DM - diabetes caused by a relative or absolute deficiency of insulin and characterized by polyuria; "when doctors say `diabetes' they usually mean `diabetes mellitus'" autoimmune disease , autoimmune disorder - any of a large group of diseases characterized by abnormal functioning of the immune system that causes your immune system to produce antibodies against your own tissues Continue reading >>

Flatbush Diabetes

Most of us who have had diabetes for at least a few years are likely to be familiar with the main types of diabetes: type 1, which is autoimmune, and type 2, which involves insulin resistance. We may also be aware of some minor types like LADA (latent autoimmune diabetes of adults), a slower-onset form of autoimmune diabetes that appears in adults. Another type is MODY (maturity-onset diabetes of the young), which often, but not always, appears in children or young people. It is monogenic, meaning a mutation in only one gene causes the disease, and the affected gene is dominant, meaning that you can inherit only one copy of the gene from one parent and a normal gene from the other parent and you’ll get MODY. Type 2 diabetes is polygenic, meaning a lot of genes are usually involved. Other forms of diabetes include gestational diabetes, a usually temporary form of diabetes that occurs in late pregnancy and then goes away after the baby is born, although having gestational diabetes greatly increases your risk of getting type 2 diabetes later. And there are various rare forms of diabetes as well as diabetes induced by taking drugs, including steroids. But there’s another form of diabetes that seems to becoming more and more common, especially in Africa, and that’s Flatbush diabetes, named after the New York area where it was described some years ago. It’s also been called a lot of other things, including atypical diabetes, type 1B diabetes, idiopathic [meaning the cause is unknown) type 1 diabetes, and ketosis-prone type 2 diabetes. I’ll use the term Flatbush diabetes because I find it easier to rememember colorful nicknames, and also because it doesn’t require one to decide if this form of diabetes is really type 1 or type 2. In fact, it seems to be somewhat in Continue reading >>

Ketosis-prone Diabetes

severe diabetes mellitus with an early onset; characterized by polyuria, excessive thirst, increased appetite, weight loss, and episodic ketoacidosis; diet and insulin injections are required to control the disease (* ketosis-prone diabetes may be used in a singular or plural context) or KPD is an intermediate form of diabetes that has some characteristics of type 1 and some of type 2 diabetes. However, it's distinct from latent autoimmune diabetes, an intermediate diabetes which is known as type 1.5. KPD is readily diagnosible... juvenile diabetes | type 1 diabetes mellitus The disease whose main symptom is that the body does not produce insulin. type 1 diabetes | insulin-dependent diabetes | insulin-dependent diabetes mellitus | type 1 diabetes mellitus | IDDM a form of diabetes mellitus that usually develops during childhood or adolescence and is characterized by a severe deficiency in insulin secretion ... any of several disorders characterized by increased urine production. | a disorder of carbohydrate metabolism, usually occurring in genetically ... (18of196words, 5definitions, pronunciations) insulin-dependent diabetes mellitus; a form of diabetes in which patients have little or no ability to produce insulin and are therefore entirely ... autoimmune disease | collagen disease | autoimmune diseases any of a number of abnormal conditions caused when the body produces antibodies to its own substances. In rheumatoid arthritis, a group of antibody ... disorder of carbohydrate metabolism characterized by impaired ability of the body to produce or respond to insulin and thereby maintain proper levels ... the commonest form of diabetes, caused by a deficiency of the pancreatic hormone insulin, which results in a failure to metabolize sugars and starch. ... a chronic fo Continue reading >>

Ketosis-prone Diabetes

Ketosis-prone diabetes or KPD is an intermediate form of diabetes that has some characteristics of type 1 and some of type 2 diabetes. However, it is distinct from latent autoimmune diabetes , a form of type 1 sometimes referred to as type 1.5. [1] KPD is readily diagnosible because it presents a single characteristic, ketoacidosis, which if present, confirms it as ketosis-prone diabetes. [2] KPD comes in four forms depending upon the presence or absence of -cell autoantibodies (A+ or A) and -cell functional reserve (+ or ). [3] ^ There is clearly a spectrum of clinical phenotypes among patients with islet autoantibodies who do not present with ketosis, including those termed latent autoimmune diabetes in adults (LADA) (30), type 1.5 diabetes (31,32,33), and slowly progressing type 1 diabetes (34). A similar spectrum exists in KPD that includes the very different phenotypes of A+ and A++ KPD. A+ KPD is synonymous with classic, early onset autoimmune type 1 diabetes; A++ KPD may overlap with LADA. However, there are differences between LADA, as recently defined by the Immunology of Diabetes Society, and A++ KPD patients; most importantly, the definition of LADA excludes patients who require insulin within the first 6 months after diagnosis, whereas the majority (90%) of A++ KPD patients present with DKA as the first manifestation of diabetes and therefore require insulin at the start. Leslie, R. D. G.; et al. (2008). "Diabetes classification: grey zones, sound and smoke: Action LADA 1". Diabetes/metabolism research and reviews. 24 (7): 511519. doi : 10.1002/dmrr.877 . Nalini, Ramaswami; et al. (2008). "HLA class II alleles specify phenotypes of ketosis-prone diabetes". Diabetes Care. 31 (6): 11951200. doi : 10.2337/dc07-1971 . This article about an endocrine, nutritiona Continue reading >>