Smith-Magenis syndrome

Smith-Magenis syndrome, SMS

Also known as: 스미스-마제니스 증후군

Psychiatry doctors

Doctors who treat Smith-Magenis syndrome

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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
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
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
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)

Korea University Ansan Hospital Kang Eun-gu

Kang Eun-gu

Korea University Ansan Hospital · Pediatrics

유전, 대사내분비 클리닉

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

Disease Description (Causes and Symptoms)

  • Cause: Middle East Respiratory Syndrome Coronavirus (MERS-CoV), a novel betacoronavirus, is the cause. Bats are presumed to be the natural host, and camels have been reported as intermediate hosts.
  • Pathophysiology: The virus invades respiratory epithelial cells, causing inflammation and lung damage, and enters via the DPP4 (CD26) receptor on human cells. In severe cases, it may progress from pneumonia to acute respiratory distress syndrome (ARDS), systemic inflammation, and multiorgan failure; kidney injury (acute renal failure) commonly accompanies the illness.
  • Main symptoms: After an incubation period of 7–14 days, fever, cough, shortness of breath, and chest pain are common, and some patients develop gastrointestinal symptoms such as diarrhea and vomiting. In severe patients, the disease may progress to pneumonia, acute renal failure, and respiratory failure, and the case fatality rate is high (approximately 30–40%, depending on the report).

Treatment

  • Standard treatment: As there are no specifically approved antiviral drugs or vaccines, treatment is mainly supportive (symptomatic).
    • Mild cases: Symptom monitoring and symptomatic treatment (such as fever reduction and fluid replacement), with isolation and infection control.
    • Severe cases: Intensive care treatment, including oxygen therapy, mechanical ventilation (if necessary), hemodynamic stabilization, and renal replacement therapy (dialysis) in cases of renal failure. ECMO may be considered if necessary.
  • Attempted drug treatment (limited evidence): Antiviral and immunotherapy treatments, such as combination therapy with interferon and ribavirin, have been used in some cases, but they are not recommended as established standard treatment. Antibiotics are used when a secondary bacterial infection is suspected.
  • Lifestyle management and precautions: Get sufficient rest and fluids, and visit a medical institution immediately if fever or respiratory symptoms worsen. Wear a mask, practice hand hygiene, and follow cough etiquette to reduce transmission to others. If infection is suspected, undergo isolation and testing according to public health guidelines.
  • Risk of complications: Pneumonia, ARDS, acute renal failure, multiorgan failure, and secondary bacterial infection. Older adults and people with underlying conditions (such as cardiovascular disease, diabetes, chronic lung disease, and chronic kidney disease) have an increased risk of severe illness and death.
  • Prognosis: It varies depending on age and underlying conditions, and the overall mortality rate is relatively high (approximately 30–40%, depending on the report). Even young patients can progress to severe illness.

Checkpoints Before an Outpatient Visit (Including Items to Bring and Sample Questions)

  • Items to bring (helpful for consultation and testing):
    • Medications currently being taken (prescriptions and medication list)
    • Underlying conditions and past medical history (especially heart, lung, and kidney disease and immunosuppressed status)
    • Recent travel history (including travel to the Middle East) and whether there has been contact with animals such as camels
    • Date symptoms began and their progression (fever records, whether cough or shortness of breath has worsened, and whether diarrhea is present)
    • Recent test results (if possible, sputum test, blood test, and imaging results, etc.)
  • Information to tell medical staff first during an outpatient visit: Recent travel to the Middle East, contact with a hospital or patient (exposure at a medical institution), and whether there has been acute worsening (shortness of breath, cyanosis, or decreased consciousness).
  • Sample questions (sentences the patient can prepare to ask medical staff):
    • "I recently traveled to the Middle East (such as Saudi Arabia). Do I need to be tested?"
    • "My kidney function is poor. If the disease worsens, how likely is it that I will need dialysis?"
    • "When will isolation and a return to daily activities (return to work) be possible?"

Examples of General Questions to Ask the Doctor

  • What are the main side effects and precautions for this medication (prescription medicine)?
  • Given my condition, how likely is it that I will need intensive care or ventilator treatment?
  • How long should I self-isolate until my symptoms improve, and what precautions should I take around other people?

Examples of Disease-Specific Questions

  • I have a history of travel to the Middle East (or contact with camels). I have a fever and cough; what tests should I undergo and when (including the type of specimen and timing of testing)?
  • Someone in my family has an underlying condition (for example, chronic kidney failure or immunosuppression). What special infection-control measures should I follow when caring for them at home?

Additional Key Points

  • Diagnosis: Confirmed by RT-PCR of respiratory specimens (sputum, bronchoalveolar lavage fluid, etc.); serologic testing may be used as an adjunct.
  • Prevention: Practice hand hygiene and cough etiquette, avoid contact with people who have fever or respiratory symptoms, avoid contact with camels and consumption of raw camel milk products, and follow standard, droplet, contact, and airborne infection-control guidelines in medical institutions.
  • If infection is suspected, follow the guidance of public health authorities and be sure to inform medical staff of your travel and exposure history.

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Reviewed by · GoodDoctorNet medical specialists

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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