Paroxysmal nocturnal hemoglobinuria

Also known as: 발작성야간혈색뇨 PNH, 발작성 혈색소뇨

Pulmonology doctors

Doctors who treat Paroxysmal nocturnal hemoglobinuria

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Soonchunhyang University Seoul Hospital Kim Gyeong-ha

Kim Gyeong-ha

Soonchunhyang University Seoul Hospital · Hematology and Oncology

만성백혈병, 악성림프종, 다발성골수종, 조혈모세포이식, CAR-T 세포치료, 출혈성질환, 혈전클리닉(암 관련 혈전 질환 치료 및 예방), 빈혈, 기타 혈액질환

5.0
Soonchunhyang University Seoul Hospital Yoon Seok-yun

Yoon Seok-yun

Soonchunhyang University Seoul Hospital · Hematology and Oncology

급성백혈병, 골수형성이상증후군, 재생불량성빈혈, 골수증식종양, 조혈모세포이식, 빈혈, 기타 혈액질환, CAR-T 세포치료

5.0
Chungnam National University Hospital Ko Jeong-suk

Ko Jeong-suk

Chungnam National University Hospital · Hematology and Oncology

혈액질환(빈혈, 급성백혈병, 골수형성이상증후군), 골수이식

5.0
Hallym University Sacred Heart Hospital Han Bo-ram

Han Bo-ram

Hallym University Sacred Heart Hospital · Hematology and Oncology

백혈병, 골수형성이상증후군 등 악성혈액질환, 빈혈, 백혈구, 혈소판 감소 등 양성혈액질환

5.0
Yeouido St. Mary's Hospital, Catholic University of Korea Jeon Yeong-u

Jeon Yeong-u

Yeouido St. Mary's Hospital, Catholic University of Korea · Hematology and Oncology

CAR-T세포치료/이중항체치료,림프종,조혈모세포이식,면역세포치료,만성림프구성백혈병,캐슬만,형질세포이상증후군,야간혈색소 혈뇨증 (PNH), (혈액)희귀질환

4.5
Seoul National University Hospital Kim In-ho

Kim In-ho

Seoul National University Hospital · Hematology and Oncology

만성골수성백혈병, 골수형성이상증후군, 다발골수종, 골수섬유화증, 재생불량빈혈

3.3
Asan Medical Center Choi Eun-ji

Choi Eun-ji

Asan Medical Center · Hematology and Oncology

급성·만성골수성백혈병, 골수형성이상증후군, 재생불량성빈혈, 골수증식성종양, 급성백혈병의심,유전성 혈액암 클리닉

Eunpyeong St. Mary's Hospital, Catholic University of Korea Shin Seung-hwan

Shin Seung-hwan

Eunpyeong St. Mary's Hospital, Catholic University of Korea · Hematology and Oncology

다발골수종, 재생불량빈혈, 조혈모세포이식, 기타 혈액질환

Kangwon National University Hospital Jang Hui-ryeong

Jang Hui-ryeong

Kangwon National University Hospital · Hematology and Oncology

빈혈, 혈액질환, 혈액응고장애, 혈액종양질환, 림프종, 악성흑색종

Konkuk University Hospital Lee Hong-gi

Lee Hong-gi

Konkuk University Hospital · Hematology and Oncology

백혈병, 악성림프종, 다발성골수종, 빈혈, 혈전증, 조혈모세포이식, CAR-T 세포치료

Disease Description (Causes and Symptoms)

  • Cause: A parasitic disease caused by infection with Trypanosoma cruzi. It is primarily transmitted by kissing bugs of the Reduviidae family (blood-sucking insects), and can also be transmitted through blood transfusion, organ transplantation, contaminated food, and congenitally (through the placenta).
  • Pathophysiology summary: The parasite enters the bloodstream and invades and proliferates in various tissues (especially the myocardium and smooth muscle of the gastrointestinal tract) → acute inflammation and tissue damage → in the chronic phase, persistent immune responses and fibrosis cause cardiomyopathy (heart failure, arrhythmias) and autonomic nerve damage (megaesophagus, megacolon).
  • Main symptoms
    • Acute phase (weeks after infection): Fever, enlargement of nearby lymph nodes, swelling or a nodule at the bite site (chagoma), swelling of one eyelid ("Romaña sign"); most cases are mild or asymptomatic.
    • Chronic phase (years to decades later): Cardiac symptoms (arrhythmias, heart failure, chest pain, syncope, sudden death), gastrointestinal symptoms (dysphagia and impaired swallowing due to megaesophagus, constipation and risk of intestinal obstruction due to megacolon). Severe heart disease may develop in approximately 20–40% of patients.

Treatment Methods

  • Antiparasitic medications (specific treatment)
    • Benznidazole: Commonly used as the standard treatment. (Provided information: oral administration at 5 mg/kg for 60 days)
    • Nifurtimox: Alternative medication. (Provided information: oral administration of 8–10 mg/kg in adults and 15–20 mg/kg in children for 90–120 days)
    • Precautions: The medication dose and treatment duration are adjusted according to age, body weight, acute or chronic disease stage, and the possibility of adverse effects. Whether to use the medication is determined based on clinical judgment. Administration during pregnancy is generally not recommended.
  • Treatment of symptoms and complications
    • Heart: Antiarrhythmic medications, heart failure treatment (ACE inhibitors/ARBs, beta-blockers, diuretics, etc.), and, when necessary, consideration of electrophysiological treatment, an implantable cardioverter-defibrillator (ICD), a pacemaker, or heart transplantation.
    • Gastrointestinal tract: Esophageal dilation, surgical correction (for severe megaesophagus/megacolon), and nutritional management.
  • Lifestyle management and precautions
    • Adverse effects of medication (peripheral neuropathy, gastrointestinal symptoms, skin rash, hematologic abnormalities, etc.) should be monitored. Regular blood tests and clinical follow-up should be performed during treatment.
    • Even in the chronic phase, the benefit of antiparasitic treatment varies depending on age and disease stage. Treatment is most effective in children and in acute and congenital infections.
    • Consultation and collaborative care with an infectious disease specialist (infectious diseases/tropical medicine) and cardiology and gastroenterology specialists are recommended.

Checklist Before an Outpatient Visit (What to Bring and Prepare)

  • Items/materials
    • A list of currently used medications (including prescription drugs, over-the-counter medications, and supplements)
    • Records of past medical conditions and surgeries, and allergy history
    • A record of recent symptom changes (fever, syncope or presyncope symptoms, shortness of breath, swallowing difficulty, constipation, etc.) and when they began
    • Travel and residence history (whether you have visited or lived in Central or South America), history of blood transfusion or organ transplantation, and birth-related information (maternal infection history)
    • Previous test results (electrocardiogram, echocardiogram, blood tests, chest imaging, previous parasite test results, etc.)
  • Items useful to measure on the day
    • Current body temperature, blood pressure, and heart rate
    • If currently taking medication, a recent medication-taking history and record of adverse effects

Examples of General Questions to Ask the Doctor

  • "What tests are recommended for me for this disease (electrocardiogram, echocardiogram, antibody tests, etc.)?"
  • "Am I a candidate for antiparasitic medication treatment, and what benefits can I expect from treatment?"
  • "What are the main adverse effects of this medication (or procedure), and how should I respond if they occur?"
  • "If cardiac or gastrointestinal complications are suspected, which specialists should I see and what additional tests should I undergo?"
  • "What is the prognosis? How should I receive long-term follow-up?"

Examples of Disease-Specific Questions

  • Regarding pregnancy and congenital infection: "If I am pregnant or planning a pregnancy, is antiparasitic treatment possible? What is the plan for congenital infection testing and management?"
  • Regarding cardiac complications: "If my risk of arrhythmia or heart failure is high based on my electrocardiogram/Holter/echocardiogram results, what monitoring (Holter monitoring, exercise stress testing, imaging tests, etc.) and treatment (medication or device therapy) will I need?"

Additional Summary (Brief)

  • Diagnostic summary: In the acute phase, diagnosis is made by microscopic observation of parasites in the blood (such as through blood concentration methods) or PCR; in the chronic phase, diagnosis is made when two or more different serologic tests (ELISA, IFA, etc.) are positive. PCR is used as an adjunctive tool.
  • Prevention: Improve sleeping conditions (avoid exposure to kissing bugs), control insects, screen blood and organ donors, ensure hygienic food handling, and perform screening tests during pregnancy.
  • Complications: Heart failure, arrhythmias, sudden death, thromboembolism, and aspiration or delayed treatment due to megaesophagus or megacolon.
  • Recommendation: If symptoms are present or infection is suspected, consult an infectious disease or tropical medicine specialist to establish an appropriate diagnostic and treatment plan.

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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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