Maple syrup urine disease

Maple-syrup urine disease

Also known as: 단풍당밀뇨증 MSUD, 단풍나무시럽병, 단풍당뇨증, 키노아미노산혈증

Doctors who treat Maple syrup urine disease

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Ewha Womans University Mokdong Hospital Park Eun-ae

Park Eun-ae

Ewha Womans University Mokdong Hospital · Pediatrics

미숙아·신생아질환(신생아황달, 호흡곤란 등), 미숙아 추적 관리, 선천 기형, 유전질환

5.0
Inha University Hospital Lee Ji-eun

Lee Ji-eun

Inha University Hospital · Pediatrics

소아유전대사, 내분비대사, 당뇨병, 비만, 성장이상(저신장,성조숙증), 염색체이상, 유전성희귀질환

5.0
Kangbuk Samsung Hospital Yang A-ram

Yang A-ram

Kangbuk Samsung Hospital · Pediatrics

1형 및 2형 당뇨 (인공췌장클리닉), 희귀유전질환 (Turner syndrome, Prader-Willi syndrome, 골이형성증 그외 유전대사질환-성인포함), 리소좀축적질환 (뮤코다당증, 고셔병, 폼페병), 내분비 질환 (성장/사춘기, 소아비만, 갑상선, 부신 및 뇌하수체질환 등)

5.0
Chungnam National University Hospital Lim Han-hyeok

Lim Han-hyeok

Chungnam National University Hospital · Pediatrics

내분비대사질환(당뇨병, 갑상선, 뇌하수체질환, 성분화이상, 비만), 성장이상(저신장, 성조숙증) 유전대사질환클리닉★ 심층진료★

5.0
Seoul National University Bundang Hospital Kim Jae-hyeon

Kim Jae-hyeon

Seoul National University Bundang Hospital · Pediatrics

소아청소년당뇨병, 대사증후군/비만, 고지혈증, 갑상샘질환, 부신질환, 뇌하수체질환, 성장장애, 사춘기질환

4.0
Seoul National University Bundang Hospital Kim Ji-hyeon

Kim Ji-hyeon

Seoul National University Bundang Hospital · Pediatrics

혈뇨, 단백뇨, 유전성 신질환, 알포트 증후군, 요로감염, 수신증, 선천성 신장 요로 기형, 만성 콩팥병, 급성 신손상, 자반증, 신장염, 신증후군, 야뇨증

4.0
Inha University Hospital Kim Su-jin

Kim Su-jin

Inha University Hospital · Pediatrics

유전성대사질환, 사춘기질환, 저신장, 당뇨병, 갑상선 내분비질환, 소아신장질환(혈뇨, 단백뇨, 신증후군, 급/만성 신부전, 선천성 신장질환)

Konyang University Hospital Oh Jun-seok

Oh Jun-seok

Konyang University Hospital · Pediatrics

성조숙증, 저신장, 당뇨, 비만, 갑상선 질환 등 소아내분비 질환, 희귀질환(극희귀질환 진단 의사)

Inje University Busan Paik Hospital Lee Bo-ryeon

Lee Bo-ryeon

Inje University Busan Paik Hospital · Pediatrics

소아뇌전증, 경련, 두통, 발달지연, 신경유전질환, 희귀유전질환(신경섬유종, 결절성경화증, 염색체이상, 다발성기형, 저인산혈증구루병), 희귀유전질환클리닉 : 목요일 오후

Inha University Hospital Kwon Yeong-se

Kwon Yeong-se

Inha University Hospital · Pediatrics

소아신경, 뇌전증, 유전성 대사질환

Diabetes mellitus (Diabetes mellitus)

1) Disease description (causes and symptoms)

  • Causes and pathophysiology
    • This is a metabolic disease in which blood glucose remains elevated due to insufficient secretion of insulin produced by the pancreas or reduced insulin action. When blood glucose is high, glucose is excreted in the urine, causing water loss, electrolyte imbalance, and metabolic abnormalities.
    • Both genetic predisposition and environmental factors are involved in its development. Risk factors include older age, obesity (especially abdominal obesity), lack of exercise, stress, pregnancy, infection, and exposure to medications such as steroids and immunosuppressants. Cases in which a specific genetic abnormality is identified are rare (a small minority of all cases).
  • Main symptoms
    • The classic three polys: polyuria, polydipsia, and polyphagia
    • Fatigue, weight loss (despite maintaining food intake), visual disturbances (reduced vision), numbness or tingling in the hands and feet (neuropathy), and itchy skin (especially vaginal itching in women)
    • Mild cases or cases in the early chronic stage are often asymptomatic
  • Overview of complications (related to pathophysiology)
    • Acute metabolic complications: hyperglycemic coma (hyperosmolar state), ketoacidosis, severe hypoglycemia, etc. — immediate treatment is required
    • Chronic complications: lesions of the microvasculature (retinopathy, nephropathy, and neuropathy) and macrovasculature (cardiovascular disease, cerebrovascular disease, and peripheral artery disease). Vascular damage progresses as a result of long-term hyperglycemia.

2) Treatment methods and precautions

  • Basic principles
    • Lifestyle management (dietary therapy + regular exercise) → medication if necessary (oral hypoglycemic agents) → insulin (or injectable medications), with treatment provided stepwise and individualized
  • Medication treatment (summary)
    • Oral medications: metformin (recommended first-line medication), SGLT2 inhibitors, GLP-1 analogues (including injectable medications), DPP-4 inhibitors, sulfonylureas, etc. — selected according to patient characteristics (renal function, body weight, and concomitant cardiovascular or kidney disease)
    • Insulin: used for type 1 diabetes or when control is insufficient with oral medications, and in cases of acute complications, surgery, pregnancy, etc.
  • Monitoring and targets (general recommendations)
    • The HbA1c target is individualized according to patient characteristics (generally, a target around 7% is used, but the target is relaxed for older adults and patients at risk of hypoglycemia)
    • Self-monitoring of blood glucose (using a blood glucose meter), regular HbA1c testing (generally every 3 months when adjusting treatment, and every 3–6 months when stable), and periodic tests such as renal function, lipid, and urine albumin tests are necessary
  • Management of comorbidities (important for reducing cardiovascular risk)
    • Controlling blood pressure and lipids (hyperlipidemia) is important for preventing coronary artery and cerebrovascular complications
  • Education and self-management precautions
    • Recognize and manage hypoglycemia (symptoms and rapid intake of sugar), manage sick days, regularly inspect the feet and skin (foot care), and undergo regular fundus examinations (for retinopathy) and kidney tests
    • Check for medication side effects (e.g., hypoglycemia, gastrointestinal symptoms, and SGLT2-related urinary tract infections) and drug interactions
  • Emergencies
    • Visit the emergency room immediately in the event of severe vomiting, dehydration, confusion, or decreased consciousness (ketoacidosis or hyperosmolar coma may be present)

3) Checklist before an outpatient visit (items to bring and interview preparation)

  • Items to bring (recommended)
    • A list of all medications and supplements currently being taken (name, dose, and administration time)
    • Recent test results (HbA1c, fasting blood glucose, renal function (BUN/Cr), electrolytes, lipids, and urine albumin/creatinine ratio from within the past 3–6 months)
    • Self-monitored blood glucose records (measurements by time of day, including records of hypoglycemia)
    • A record of changes in symptoms (changes in weight, urination, thirst, fatigue, and vision, etc.), and any recent infections, surgery, or stressful situations
    • Photos of the feet (if there are wounds, blisters, or redness on the feet), and whether pregnancy is possible (women of childbearing age)
  • Information that is helpful to provide to the medical staff during an outpatient visit
    • Regular eating and exercise patterns, alcohol consumption and smoking status, and family history (diabetes, cardiovascular disease, etc.)
    • History of recent hospitalizations or emergency room visits

Example questions (in a form that patients can answer immediately during an outpatient visit)

  • Recent self-monitored blood glucose patterns (fasting in the morning, 2 hours after meals, before bedtime, etc.) and whether hypoglycemia has occurred
  • The names and doses of medications currently being taken

4) Examples of general questions to ask the doctor

  • What are the most common side effects of this medication (or combination of medications), and how should they be managed?
  • What should my target HbA1c (or blood glucose range) be? How is an individualized target determined?
  • What are specific ways to prevent and manage hypoglycemia?
  • How often should I be screened for complications (eyes, kidneys, nerves, feet, etc.)?
  • How should hypertension and hyperlipidemia accompanying diabetes be managed in an integrated manner?

5) Examples of disease-specific customized questions

  • I am planning a pregnancy. Do my blood glucose targets and medications (especially oral medications and insulin) need to be adjusted before and during pregnancy?
  • I have recently experienced reduced sensation in my feet. How should foot examinations (sensation, blood flow, and wounds) and foot care be managed?

Note: Diagnostic criteria (for clinical reference) — Diabetes mellitus may be diagnosed when, in the presence of clinical symptoms, at least one of the following is met: random blood glucose ≥ 200 mg/dL, fasting blood glucose ≥ 126 mg/dL (8 hours of fasting), or 2-hour blood glucose ≥ 200 mg/dL after a 75 g oral glucose tolerance test. When there are no clear symptoms of hyperglycemia, confirmation with repeat testing on another day is recommended.

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This information is for general understanding only and does not replace diagnosis, prescription or treatment for an individual patient. If you have symptoms, please see a doctor.

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