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Maturity onset diabetes of the young

Maturity onset diabetes of the young (MODY) refers to any of several rare hereditary forms of diabetes mellitus due to dominantly inherited defects of insulin secretion. As of 2004, six types have been enumerated, but more are likely to be added. MODY 2 and MODY 3 are the most common forms. The severity of the different types varies considerably, but most commonly MODY acts like a very mild version of type 1 diabetes, with continued partial insulin production and normal insulin sensitivity. It is not type 2 diabetes in a young person, as might erroneously be inferred from the name. more...

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History of the concept and treatment of MODY

The term MODY dates back to 1964, when diabetes mellitus was considered to have two main forms: juvenile-onset and maturity-onset, which roughly corresponded to what we now call type 1 and type 2. MODY was originally applied to any child or young adult who had persistent, asymptomatic hyperglycemia without progression to diabetic ketosis or ketoacidosis. In retrospect we can now recognize that this category covered a heterogeneous collection of disorders which included cases of dominantly inherited diabetes (the topic of this article, still called MODY today), as well as cases of what we would now call type 2 diabetes occurring in childhood or adolescence, and a few even rarer types of hyperglycemia (e.g., mitochondrial diabetes or mutant insulin). Many of these patients were treated with sulfonylureas with varying degrees of success.

By the 1990s, as our understanding of the pathophysiology of the various forms of diabetes has increased, the concept and usage of "MODY" have become refined and narrower. It is now used as a synonym for dominantly inherited, monogenic defects of insulin secretion occurring at any age, and no longer includes any forms of type 2 diabetes.

Signs, symptoms and differential diagnosis

There are two general types of clinical presentation. Some forms of MODY produce significant hyperglycemia and the typical signs and symptoms of diabetes: increased thirst and urination (polydipsia and polyuria). In contrast, however, many people with MODY have no signs or symptoms and are diagnosed by either (1) accident, when a high glucose is discovered during testing for other reasons, or (2) screening of relatives of a person discovered to have diabetes. Discovery of mild hyperglycemia during a routine glucose tolerance test for pregnancy is particularly characteristic.

MODY cases may make up as many as 5% of presumed type 1 and type 2 diabetes cases in a large clinic population. While the goals of diabetes management are the same no matter what type, the two primary advantages of confirming a diagnosis of MODY are that (1) insulin may not be necessary and it may be possible to switch a person from insulin injections to oral agents without loss of glycemic control, and (2) it may prompt screening of relatives and discovery of other cases in family members.

As it occurs infrequently, many cases of MODY are initially assumed to be more common forms of diabetes: type 1 if the patient is young and not overweight, type 2 if the patient is overweight, or gestational diabetes if the patient is pregnant. Standard diabetes treatments (insulin for type 1 and gestational diabetes, and oral hypoglycemic agents for type 2 are often initiated before the doctor suspects a more unusual form of diabetes. In some forms of MODY, standard treatment is appropriate, though exceptions occur. For example, in MODY2, oral agents are relatively ineffective and insulin is unnecessary, while in MODY1 and MODY3, insulin may be more effective than drugs to increase insulin sensitivity. Sulfonylureas are effective in the KATP channel forms of MODYX.

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DSNs need to improve colleagues' knowledge of diabetes
From Journal of Diabetes Nursing, 6/1/04 by Jane Houghton

Last month 1 attended the presentation, by the Royal College of Nursing Diabetes Forum, of their new publication about people with type 2 diabetes and how to change their treatment to insulin when the need arises (Royal College of Nursing, 2004).

[ILLUSTRATION OMITTED]

It was an excellent presentation, but everyone was taken aback when a nurse in the audience asked the question: 'What are type 1 and type 2 diabetes? Is type 2 diabetes another form of insulin-dependent diabetes?'

The speakers explained the difference between insulin-dependent and insulin-requiring diabetes, and their relationship to type 1 and type 2 diabetes. The nurse replied that they sounded like what used to be known as maturity-onset and juvenile diabetes. Now she understood.

Gaps in paediatric ward nurses' knowledge of diabetes

One of the articles in this supplement, by Emma Thomas, a clinical nurse specialist in paediatric diabetes, is an audit of paediatric ward nurses' knowledge of diabetes.

The findings revealed a worrying shortfall in their knowledge of many aspects of diabetes. Although disappointing, these results will not come as a surprise to many of us, and they would probably be similar for most types of healthcare professionals, even though diabetes is a very common condition, seen in every age group from neonates to the elderly, and in every specialty, as well as in our personal lives.

Ongoing education essential

One of the concerns of the National Service Framework for Diabetes (Department of Health, 2001, 2003) was education. As new research findings are made known and recommended treatments change, ongoing education becomes essential for all staff.

However, among staff not working directly in diabetes care, there is a great deal of apathy, which is understandable, as they have so many other pressures and targets to meet. Consequently, few of these staff attend voluntary study days. Diabetes is not top of their agenda, they have little interest in it and probably fear it a little.

Educating our colleagues

As diabetes becomes more and more common among younger age groups, we have to look at ways of improving the care we provide to this group. One way is to improve diabetes knowledge among those not working directly in diabetes care. Some areas have already devised ways of doing this.

I would be very interested in hearing from health professionals who have devised successful systems for educating their colleagues, so that we can share their systems.

Cystic fibrosis related diabetes

The second article in this supplement, by Judith Campbell, a paediatric diabetes nurse specialist, and Mark Bone, a consultant paediatrician, is a review of cystic fibrosis and diabetes. It is only in the last 20 years or so that children with cystic fibrosis have lived into adulthood in significant numbers. As this number increases, so too does the number of young people with this condition who have the added misfortune to develop secondary diabetes.

The treatment of cystic fibrosis related diabetes is complicated by the more important needs of their primary condition, such as dietary needs. They may even need overnight supplementary feeds. They still make up only a very small proportion of most diabetes clinics, so it is extremely helpful to read how these individuals are cared for in this clinic.

Royal College of Nursing (2004) Starting Insulin Treatment in Adults with Type 2 Diabetes. RCN, London

Department of Health (2001) National Service Framework for Diabetes: Standards. DoH, London

Department of Health (2003) National Service Framework for Diabetes: Delivery Strategy. DoH, London

Jane Houghton is a Nurse Consultant at Royal Preston Hospital and Chair of the RCN Paediatric and Adolescent Diabetes Special Interest Group.

COPYRIGHT 2004 S.B. Communications
COPYRIGHT 2004 Gale Group

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