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MODY 당뇨병

Maturity-Onset Diabetes of the Young (MODY)

박승신 ( Seung Shin Park ) , 곽수헌 ( Soo Heon Kwak )
  • : 대한당뇨병학회
  • : 당뇨병(JKD) 23권3호
  • : 연속간행물
  • : 2022년 09월
  • : 157-164(8pages)
당뇨병(JKD)

DOI


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서론
유병률
분류
진단
치료
REFERENCES

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초록 보기

앞으로 정밀의료는 개인별 특성에 맞게 당뇨병의 진단, 분류, 치료를 보다 구체화시키는 데 일조할 것이다. 단일유전자 당뇨병에 있어서는 이러한 변화가 이미 두드러지게 나타나고 있다. MODY 아형은 MODY의 원인 유전자에 따라 HNF1α-, GCK-, HNF4α-, HNF1β-MODY 등으로 구분되고 있으며 MODY 진단에 있어서도 원인 유전변이를 ACMG-AMP 지침을 통해 검증하는 것이 일반화되고 있다. 정확한 진단이 이루어지면 MODY 아형에 따라 설포닐유레아, GLP-1수용체 작용제, 인슐린, 혹은 치료 없이 경과 관찰 등 개별화된 치료 방법을 적용할 수 있다. MODY에서 적용되고 있는 이러한 정밀의료로의 변화는 단일유전자당뇨병뿐 아니라 전체 당뇨병의 분류, 진단, 치료에 있어서도 큰 변화를 가져올 수 있는 계기가 될 것으로 기대된다. 아직 국내에서는 MODY에 대한 진단 검사 및 발견이 적은 편이다. 이를 높이기 위해서는 임상에 널리 적용 가능한 분자유전학적 검사의 확대 및 보험 적용이 바탕이 되어야 하며 임상의를 대상으로 임상유전체의학에 대한 교육이 확대될 필요가 있다.
Precision medicine, which optimizes diagnosis and treatment of diseases according to individualized characteristics, is becoming a reality in the field of diabetes, especially for monogenic diabetes. Maturity-onset diabetes of the young (MODY) is a type of monogenic diabetes characterized by early onset, relative non-obesity, non-insulin dependence, and autosomal dominant inheritance. With the trend toward precision medicine and improvement in genetic testing, there have been advances in the classification, diagnosis, and treatment of MODY. MODY accounts for about 1% of diabetes in Korea, with GCK (glucokinase)-MODY, HNF1α (hepatocyte nuclear factor-1 alpha)-MODY, and HNF4α (hepatocyte nuclear factor-4 alpha)-MODY being most common. In the diagnosis of MODY, applying guidelines for interpretation of variant pathogenicity is important. For the treatment of MODY, individualized treatment strategies according to the causative gene of MODY should be applied when available. Still, the majority of MODY is misdiagnosed and more genetic testing is required in Korea. We review updates regarding the classification, diagnosis, and treatment of MODY.

UCI(KEPA)

간행물정보

  • : 의약학분야  > 내과학
  • :
  • :
  • : 계간
  • : 2233-7431
  • : 2714-0547
  • : 학술지
  • : 연속간행물
  • : 2000-2022
  • : 1040


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23권4호(2022년 12월) 수록논문
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1새로운 기전의 당뇨병 약제 Tirzepatide가 당뇨병 치료에 가져올 변화

저자 : 김수경 ( Soo Kyoung Kim )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 213-216 (4 pages)

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Mounjaro® (tirzepatide) was approved by the U.S. Food and Drug Administration for type 2 diabetes treatment in August 2022. Tirzepatide, a synthetic peptide consisting of 39 amino acids, is a dual GLP-1 (glucagon-like peptide-1)/GIP (glucose-dependent insulinotropic polypeptide) receptor agonist. Tirzepatide showed marked reductions in glycated hemoglobin and body weight in the SURPASS study among participants with type 2 diabetes that surpassed existing diabetes drugs. Other benefits included blood pressure reduction and lipid lowering effects. On meta-analysis and post-hoc analysis, tirzepatide did not increase the risk of major cardiovascular events and is expected to have cardiovascular benefits in future studies. In addition, it showed a protective effect on the kidney by slowing the rate of renal function decline and reducing new-onset macroalbuminuria. However, the fact that it is an injectable drug, the cost of the drug, and the high rate of gastrointestinal side effects are disadvantages to tirzepatide. Considering the superior degree of glucose reduction and weight reduction observed in tirzepatide clinical trials compared to clinical trials of other anti-diabetic drugs, we expect tirzepatide to bring about a paradigm shift in the treatment of obese type 2 diabetes patients.

2국내 진료 환경에서 자동 인슐린주입의 임상 적용

저자 : 진상만 ( Sang-man Jin )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 217-221 (5 pages)

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In contrast to Europe and the United States (US), conventional insulin pumps have not been widely used in East Asia, even among people with type 1 diabetes. Clinical experiences in Europe and the US indicate that automated insulin delivery (AID) can successfully improve the quality of glucose control even in people with type 1 diabetes who do not have experience with conventional insulin pumps. Therefore, prior use of a conventional insulin pump was not a requirement for successful introduction of AID. However, use of AID still requires full understanding of conventional insulin pump management, and AID-specific education as well. Besides basic information on continuous glucose monitoring and conventional insulin pumps, people with type 1 diabetes starting AID should understand the difference between closed-loop and open-loop insulin delivery, should have reasonable expectations for AID, and should be motivated to engage in clinical follow-up to prevent discontinuation of the use of AID devices. Failure to provide AID-specific education before and after the introduction of AID would result in discontinuation of the use of AID devices, which would in turn result in suboptimal glucose control. In this review, I summarize lessons from clinical experience where AID is already in clinical use, and discuss what preparations should be made for successful introduction of AID in Korean clinical practice.

3당뇨병말초신경병증의 병태생리와 치료

저자 : 강선미 ( Seon Mee Kang )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 222-229 (8 pages)

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Diabetic neuropathy is the most common chronic complication of both type 1 and type 2 diabetes mellitus. Diabetic peripheral neuropathy (DPN), especially, distal symmetric polyneuropathy is the most common form of diabetic neuropathy. Pathogenesis of the DPN is associated with glycemic dysregulation, which results in activation of polyol, aldose reductase, hexosamine, and protein kinase C pathway and leads to downstream inflammation, generation of reactive oxygen species, and decreased blood flow to peripheral nerves. Furthermore, metabolic syndrome components such as obesity, insulin resistance, and dyslipidemia result in mitochondrial dysfunction and endoplasmic reticulum stress, eventually contributing to axonal failure and apoptosis of nerve cells. Despite its high prevalence, DPN is still underdiagnosed. Among DPN symptoms, neuropathic pain is challenging to manage, resulting in increased risk of associated problems such as sleep disturbance, reduced quality of life, and socioeconomic consequences. Therefore, early diagnosis and active multidisciplinary treatment of DPN is needed.

4난치성 통증을 동반한 당뇨병말초신경병증의 관리

저자 : 문지연 ( Jee Youn Moon )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 230-237 (8 pages)

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Peripheral neuropathy is one of the most common complications of both type 1 and type 2 diabetes. The most common diabetic neuropathy (DN) is distal symmetric polyneuropathy, with characteristic glove- and stocking-like presentation of distal sensory or motor function loss. Because painful DN is associated with increased mortality and morbidity, early recognition and preventive measures are essential. Nevertheless, diagnosing DN or painful DN is challenging, particularly in patients with early and mild neuropathy, and there is no established gold standard. Furthermore, there is no established DN treatment other than improved glycemic control, and only symptomatic management is available for painful DN. However, thanks to health-conscious living, almost one-third of patients with painful DN derive sufficient pain relief with existing pharmacotherapies. These include antidepressants (tricyclic acid, serotonin-norepinephrine reuptake inhibitor), anticonvulsants (calcium-channel blocker, sodium channel blocker), and others (sarpogrelate). A more precise and distinct symptom profile from patients with painful DN may help identify patients more responsive to one treatment versus another. In addition to pharmacological, physical, cognitive, or educational management for painful DN, large randomized clinical trials are needed to identify the most effective minimally invasive interventions. Transcutaneous electrical nerve stimulation, pain scrambler therapy, sympathetic ganglion block, and botulinum toxin injections have been investigated as alternative therapeutic outcomes.

5머신러닝 기법을 이용한 당뇨병신경병증의 예측

저자 : 현정근 ( Jung Keun Hyun )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 238-244 (7 pages)

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Peripheral polyneuropathy is one of the most common complications in patients with diabetes mellitus, and it results in neuropathic pain, falling tendency, and foot ulcers as well as sensory and motor impairments. Numerous risk factors for diabetic neuropathy had been revealed through statistical analysis; however, statistics draw population inferences and might not be suitable for providing real-time prediction for each patient in clinical practice. Machine learning techniques were developed to find any predictive patterns based on input data. Such strategies can help predict neuropathy in diabetic patients, enabling prevention or early treatment to increase quality of life in diabetic patients. This article summarizes recent studies concerning the prediction of diabetic neuropathy using machine learning techniques, and suggests approaches for useful translation of these methods in the medical field.

6당뇨병신경병증과 심혈관질환 위험

저자 : 윤재승 ( Jae-seung Yun )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 245-250 (6 pages)

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Neuropathy is a common complication of diabetes that can appear in the early stages of diabetes or even in the prediabetes stage. The relationship between autonomic neuropathy and cardiovascular disease (CVD) is well established. Resting tachycardia, exercise intolerance, and non-dipping/reverse dipping caused by the relative overactivity of the sympathetic nervous system are the main factors that lead to the increased risk of CVD and cardiovascular mortality. Little is known, however, about the cardiovascular consequences of peripheral neuropathy (PN). Two recent major studies suggested the possibility of a significant association between PN and CVD and mortality; thus, cardiovascular risk management for patients with PN may be necessary. Positive results on MNSI (Michigan Neuropathy Screening Instrument) questionnaires and 10-g monofilament test are convenient methods for early screening and management of PN that may also be useful in evaluating PN-related CVD risk.

7우리나라 만성질환관리 변화에 대한 고찰

저자 : 이정림 ( Jeong Rim Lee )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 251-257 (7 pages)

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Globally, chronic diseases have a high burden and are a significant factor affecting society, such as through economic productivity and deepening social inequality. Deaths from chronic diseases in Korea accounted for 79.6% of all deaths as of 2021, and medical expenses from chronic diseases in Korea accounted for 85.0% of all national medical expenses as of 2020. Since the 1970s, chronic disease management in Korea has focused on projects such as acute infectious diseases, maternal and child health, and family planning by region, sporadically centered on universities. Since then, the importance of prevention and management of chronic diseases has been highlighted, and a comprehensive plan for national health promotion was established in 2002 to provide policy support. Here, we looked at the progress of the chronic disease management project and its effects and review suggestions for efficient establishment of a primary medical chronic disease management project to be carried out in the future.

8영양불량을 동반한 당뇨병환자의 임상영양요법

저자 : 김민지 ( Min Ji Kim )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 258-261 (4 pages)

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Recently, the prevalence of diabetic mellitus patients in Korea has been increasing, and it increasing with age. The treatment goal of diabetes is to prevent complications through blood sugar management, for which it is important to maintain an appropriate nutritional state. Unbalanced diet refers to excessive or insufficient nutrition, which can be generally confirmed through weight conditions. Therefore, medical nutrition therapy in diabetic patients with unbalanced diet aims to maintain a moderate body mass index. Older people with diabetes have a higher risk of unbalanced diet than those without diabetes. Clinical nutritional intervention in diabetic patients should shift from strict dietary restrictions for treatment of metabolic syndrome/obesity to diet for prevention of frailty and sarcopenia with age. Therefore, clinical nutrition therapy for diabetic patients with unbalanced diet should be individualized in consideration of age, gender, and medical condition. Medical nutrition therapy tailored for each patient can contribute to improving the nutritional status of diabetic patients, prolonging healthy life expectancy and improving quality of life.

9성인당뇨병 환자의 임상 교육 상담

저자 : 이제연 ( Jea Yeon Lee )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 262-265 (4 pages)

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Diabetes patients are steadily increasing. As such, the importance of diabetes education is being emphasized as the number of diabetic patients continues to increase. Diabetes education is being conducted by experts in most hospitals. Medical social workers are part of the diabetes education team and are conducting educational counseling to help patients manage diabetes. The purpose of this article is to examine educational counseling for adult diabetic patients from the viewpoint of medical social workers.

10당화혈색소 수준에 따른 보행 시 족압변인의 타당성

저자 : 이경옥 ( Kyung-ock Yi ) , 강윤희 ( Youn-hee Kang ) , 홍영선 ( Young-sun Hong ) , 권오란 ( Oran Kwon ) , 김재원 ( Jae-won Kim ) , Yin-zhu Jin

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 4호 발행 연도 : 2022 페이지 : pp. 266-277 (12 pages)

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The purpose of this study was to explore the variables of foot pressure according to glycated hemoglobin level during walking in diabetic patients with pes rectus. The subjects of this study were 39 people (78 feet) in their 40s and 60s, and they were divided into 11 pre-diabetic patients (22 feet) and 14 diabetic patients (28 feet) based on glycated hemoglobin; 14 patients without diabetes (28 feet) was used as a control. Foot pressure was measured using the EMED-LE Measurement system. The sole of the foot was divided into 12 parts, each of which was analyzed for pressure, force, contact area, and grounding time. For statistics, nonparametric Kruskal-Wallis and Wilcoxon signed rank test were used. Prediabetic and diabetic patients had lower hindfoot and second and third metatarsal foot pressure but higher first and third toe pressure compared to those without diabetes. In addition, the maximum and minimum force were high in all parts of the sole, and the contact time was long, signifying strong downward force for a long duration. Measurement of foot pressure by parts allowed detailed analysis of abnormal foot pressure and is valuable as basic data for diagnosis, prediction, and treatment of diabetic foot. Based on these data, maximum and minimum pressure better explain the problem of plantar pressure distribution rather than mean maximum pressure.

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1당뇨병 약제의 역할은 어디까지인가?

저자 : 홍준화 ( Jun Hwa Hong )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 153-156 (4 pages)

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In management of diabetes, glucose lowering is the basic target of treatment. Insulin is essential to type 1 diabetes. Non-insulin therapy in type 2 diabetes is very diverse and continuously developing to improve glucose control and prevent diabetes-related complications. In the recent 30 years, recommended specifications of anti-diabetic drugs are high glucose-lowering efficacy, low risk of hypoglycemia, less burden of weight gain, and cardiovascular safety. With development of SGLT2 inhibitors (sodium glucose cotransporter 2 inhibitors) and GLP-1RA (glucagon-like peptide-1 receptor agonist), the clinical benefits also include risk reduction of diabetes-related complications (hospitalization for heart failure, chronic kidney disease, atherosclerotic cardiovascular disease), even in non-diabetic patients. Anti-diabetic medication can have a role in holistic management for prevention and treatment of diabetes and diabetes-related complications, as well as an improvement of mortality.

2MODY 당뇨병

저자 : 박승신 ( Seung Shin Park ) , 곽수헌 ( Soo Heon Kwak )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 157-164 (8 pages)

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앞으로 정밀의료는 개인별 특성에 맞게 당뇨병의 진단, 분류, 치료를 보다 구체화시키는 데 일조할 것이다. 단일유전자 당뇨병에 있어서는 이러한 변화가 이미 두드러지게 나타나고 있다. MODY 아형은 MODY의 원인 유전자에 따라 HNF1α-, GCK-, HNF4α-, HNF1β-MODY 등으로 구분되고 있으며 MODY 진단에 있어서도 원인 유전변이를 ACMG-AMP 지침을 통해 검증하는 것이 일반화되고 있다. 정확한 진단이 이루어지면 MODY 아형에 따라 설포닐유레아, GLP-1수용체 작용제, 인슐린, 혹은 치료 없이 경과 관찰 등 개별화된 치료 방법을 적용할 수 있다. MODY에서 적용되고 있는 이러한 정밀의료로의 변화는 단일유전자당뇨병뿐 아니라 전체 당뇨병의 분류, 진단, 치료에 있어서도 큰 변화를 가져올 수 있는 계기가 될 것으로 기대된다. 아직 국내에서는 MODY에 대한 진단 검사 및 발견이 적은 편이다. 이를 높이기 위해서는 임상에 널리 적용 가능한 분자유전학적 검사의 확대 및 보험 적용이 바탕이 되어야 하며 임상의를 대상으로 임상유전체의학에 대한 교육이 확대될 필요가 있다.

3인지장애와 당뇨병

저자 : 정찬희 ( Chan-hee Jung ) , 목지오 ( Ji-oh Mok )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 165-177 (13 pages)

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Diabetes mellitus and cognitive dysfunction are highly prevalent in the aging population. In the aging society, clinicians will be increasingly tasked with managing elderly patients who have both cognitive dysfunction and diabetes. A growing number of epidemiological and clinical studies confirmed that diabetes is associated with an increase in the risk of cognitive dysfunction and dementia. Cognitive dysfunction is of particular importance because it is associated with poor self-management ability, poor diabetes management with more frequent severe hypoglycemic episodes, and increased risk of cardiovascular morbidity and mortality. Current diabetes guidelines recommend screening for cognitive dysfunction in older and high-risk patients and providing individualized guidance for patients with cognitive dysfunction. Nonetheless, there is limited awareness among clinicians regarding this subject compared to other diabetic micro- and macrovascular complications. Recently, there has been increasing understanding in this field through multimodal neuroimaging and biomarkers for early detection of cognitive dysfunction in diabetes. In addition, new agents such as glucagon-like peptide 1 receptor agonists showed promising protective effects against cognitive dysfunction and dementia in patients with type 2 diabetes. In this review, we summarize the relationship between diabetes and cognitive dysfunction, especially dementia, and some contributing factors and pathogenesis of dementia in diabetes. We also review how anti-diabetic medications may influence cognitive dysfunction and clinical management guidance.

4우울장애와 당뇨병

저자 : 전언주 ( Eonju Jeon )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 178-184 (7 pages)

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As a result of their increasing prevalence, diabetes and depression, together with population growth and aging, are growing public health concerns. Diabetes and depressive disorder may occur on the basis of a common pathophysiology and interact with each other. Complex environmental, social, behavioral, and emotional factors influence diabetes care. In particular, maintaining psychological well-being for people with diabetes is the foundation for achieving diabetes treatment goals and satisfactory quality of life. An improved understanding of depressive disorder and diabetes may potentially lead to early detection, and timely treatment planning may simultaneously prevent the onset of depression. Ultimately, this can build positive health behaviors and optimizing medical outcomes for living with diabetes.

5수면장애와 당뇨병

저자 : 이정안 ( Jung An Lee ) , 이정구 ( Jung Goo Lee )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 185-191 (7 pages)

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Sleep problems and diabetes mellitus are increasing in prevalence. Although it is unclear if they are related, a number of related studies implicate such a relationship. A number of related studies implicate such a relationship. In this review, the significance of sleep in diabetes mellitus will be reviewed by summarizing the relationships between sleep, circadian rhythm, sleep disorders, and diabetes mellitus. Also, the mechanisms of influence will be reviewed. In addition, although the relationship between sleep and diabetes mellitus mainly has focused on type 2 diabetes mellitus, this review also summarizes the relationship between type 1 diabetes mellitus and sleep. In clinical practice, sleep problems have not been emphasized in management or prevention of diabetes mellitus. Considering their close relationship and impact on prognosis, mental health and physical health study will need to be integrated for treatment and prevention of diabetes mellitus.

6음주, 흡연과 당뇨병

저자 : 정우영 ( Wooyoung Jung )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 192-200 (9 pages)

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Many patients with diabetes continue smoking and high-risk drinking during diabetes treatment. Some patients try and fail to stop alcohol drinking and smoking because of the addictive and habitual effects. Considering the high lifetime prevalence of alcohol and nicotine use disorders, the percentage of people who actively use treatment services is low. Smoking is related to increased vascular complications and mortality as well as development of diabetes. A small amount of alcohol is allowed in the diabetes treatment guidelines, but the limit can be difficult to maintain in reality. Therefore, it is necessary for a medical doctor to evaluate the alcohol and smoking problems of diabetic patients, and it may be helpful to use screening and evaluation tools such as AUDIT (alcohol use disorders identification test) for alcohol drinking and FTND (Fagerstrom Test for Nicotine Dependence) for smoking. It is important that patients are provided necessary information and a brief intervention and that they are recommended a professional treatment such as active treatment with anti-craving medications and structural psychosocial treatment programs. Many patients are worried about the harmful effects of alcohol drinking and smoking and think they should quit it, but at the same time, they may have their own reasons for not being able to quit drinking and smoking, and may be suffering from ambivalent ideas about alcohol drinking and smoking. Therefore, rather than criticizing the patient's alcohol drinking and smoking behavior, it is important to show understanding of patient difficulties and to encourage the patient to stop drinking and smoking.

7노인당뇨병 환자의 인슐린주사교육

저자 : 이기연 ( Gi Yeon Lee )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 201-205 (5 pages)

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The number of elderly diabetes patients continues to increase. These patients experience decline in physical functions related to aging and various accompanying disease. These interrupt insulin self-injection and self-management of diabetes. Therefore, it is necessary to understand the characteristics of elderly diabetes patients in order to provide proper insulin injection education.

8비만한 당뇨병환자의 체중 조절을 위한 임상영양요법

저자 : 김미향 ( Mihyang Kim )

발행기관 : 대한당뇨병학회 간행물 : 당뇨병(JKD) 23권 3호 발행 연도 : 2022 페이지 : pp. 206-212 (7 pages)

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Clinical Practice Guidelines for Diabetes recommend that overweight or obese adults lose more than 5% of their body weight and reduce their total caloric intake to maintain the reduced body weight. In diabetic patients, the goal of weight control is not simply to lose weight, but to achieve health benefits by controlling blood sugar well and reducing the risk of complications and other comorbidities. An extremely calorie-restricted diet, whose long-term effectiveness has not been verified, is not recommended as it may increase the risk of hypoglycemia and ketoacidosis. For weight control in obese diabetic patients, it is important to follow diabetic diet guidelines while setting actionable energy goals that prevent hypoglycemia and do not increase health risks. The energy target should be adjusted in consideration of individual conditions such as daily intake, body size, and activity level.

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