Menkes disease

Also known as: 멘케스병 멘케씨병

Doctors who treat Menkes 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
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

Confirming the Disease Name

Menière's disease (메니에르병) — This is the medically accepted name. The main pathophysiology is explained by endolymphatic hydrops.


1) Disease Description (Causes and Symptoms)

  • Cause·pathophysiology: An abnormal increase in endolymphatic fluid in the inner ear causes the endolymphatic duct and endolymphatic sac to swell, resulting in impaired function of the cochlea (hearing) and vestibular organs (balance). The exact cause is unknown.
  • Main symptoms:
    • Recurrent tinnitus, aural fullness, fluctuating hearing loss (usually beginning in the low-frequency range), and recurrent sudden vertigo (severe dizziness)
    • Nausea and vomiting may accompany attacks of dizziness, and the duration of attacks varies from several tens of minutes to several hours (rarely more than a day).
    • Bilateral cases are reported in approximately 10–20% of cases. Dizziness generally decreases over time, but hearing loss may be progressive.

2) Treatment Methods

  • Lifestyle management
    • A low-salt diet (limiting salt intake), avoiding caffeine, alcohol, nicotine, excessive sugar intake, and sudden changes in fluid intake, and managing stress and sleep.
    • Avoid dangerous activities such as driving or working at heights during an attack of dizziness.
  • Medication treatment
    • Acute attacks: Symptom relief with antiemetics (such as ondansetron), sedatives/antihistamines (such as meclizine), and benzodiazepines (short-term).
    • Basic treatment: An attempt may be made to control endolymphatic pressure with diuretics (thiazides, acetazolamide, etc.); betahistine (used in some countries) — some cases report symptom improvement (evidence varies).
    • For chronic management, nasal or systemic steroids may be considered as needed (depending on symptoms and changes in hearing).
  • Local treatment/procedures·surgery
    • Intratympanic medication administration: Intratympanic steroids (for the purpose of preserving hearing) or gentamicin (to control vertigo through selective destruction of vestibular function; there is a risk of worsening hearing).
    • Endolymphatic sac decompression/shunt surgery: Considered when conservative treatment fails.
    • Vestibular neurectomy or surgery that destroys vestibular function (surgery resulting in loss of inner-ear function): Selected when the condition is limited to one ear and hearing must be preserved to some extent.
  • Rehabilitation and assistive devices
    • Vestibular rehabilitation; if hearing loss progresses, hearing aids, assistive listening devices, or implantation (in severe cases) may be considered.
  • Precautions
    • Ototoxic medications such as intratympanic gentamicin may cause hearing damage and therefore require careful selection.
    • The choice of treatment is individualized according to symptom frequency, severity, hearing status, and patient preference.

3) Checkpoints Before an Outpatient Visit (Including Preparation Items and Example Questions)

  • Preparation items·materials
    • A list of medications currently being taken (including prescription drugs, OTC medications, and herbal medicines)
    • Previous hearing tests (audiograms), nystagmus tests, and CT/MRI results (if available)
    • Attack diary: attack frequency, duration, triggers (sleep, stress, meals, etc.), accompanying symptoms (vomiting, headache, etc.), and recovery pattern after attacks
    • Records of when changes in hearing or tinnitus·aural fullness usually occur
  • Materials·records to present at the outpatient visit
    • When the most recent attack occurred and the degree of activity limitation during attacks (such as whether driving was possible)
    • Family history (ear disease, vertigo, etc.)
  • Example questions (items the patient can record independently and bring to the visit)
    • When attacks began/their frequency/their duration
    • Whether symptoms worsen with specific foods, medications, or environments

4) Examples of General Questions to Ask the Doctor

  • "What initial (nonsurgical) treatment do you recommend? How much benefit can be expected?"
  • "What are the side effects of the medication I am currently taking?"
  • "What is the usual course and prognosis of this disease? How likely is hearing loss to progress?"
  • "When are surgery or intratympanic treatment needed, and what are the risks (especially hearing damage)?"
  • "Are there any lifestyle changes I must make or precautions I should take in daily life?"

5) Examples of Disease-Specific Questions

  • "Could you confirm whether low-frequency hearing loss has been repeatedly observed on my hearing tests (audiograms)? What is the trend compared with my recent tests?"
  • "What are the criteria for considering interventional treatments such as intratympanic treatment (intratympanic steroids or gentamicin) or endolymphatic sac surgery, and am I a candidate for surgery?"

Reference (Summary)

  • Key symptoms: Recurrent vertigo, fluctuating hearing loss, tinnitus, aural fullness
  • Basic approach: Lifestyle measures + medication (diuretics·symptom-relieving medications, etc.) → transition to local injections·surgery if necessary
  • Prognosis: Vertigo often naturally decreases over time, but hearing loss may progress

(If necessary, please request additional information so that an individualized treatment plan can be specified based on the latest clinical guidelines and expert opinions.)

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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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