309.4 📋 章末速記 Summary

309.4.1 🔑 一句話總結

CF = 體染色體隱性遺傳 + CFTR mutation → chloride/bicarbonate 異常 → multi-organ disease（肺、胰、GI、肝、汗液、生殖）；最常見 F508del (~70% Caucasian alleles)；分 6 functional classes (I-VI)；diagnosis = sweat chloride ≥ 60 + clinical features + genetic testing；CFTR modulators 革命：ivacaftor (G551D class III)、tezacaftor + ivacaftor、elexacaftor + tezacaftor + ivacaftor (Trikafta/Kaftrio, ETI, 2019) — 改寫 CF 90% 病人預後；treatment pillars = CFTR modulator + airway clearance + chronic antibiotics + pancreatic enzyme + nutrition + CFRD management + lung transplant for end-stage；mortality 大幅改善：median survival 30s → 預計 60+ for newborns。

309.4.2 💊 治療精要

  • CFTR modulators：ivacaftor (G551D)、ETI (Trikafta/Kaftrio for F508del + 多數其他 mutations)
  • airway clearance：chest PT + OPEP + HFCWO vest + hypertonic saline 7% + dornase alfa (rhDNase)
  • antibiotics：acute (IV combo for Pseudomonas)、chronic (inhaled tobramycin / aztreonam alternate months + azithromycin)
  • pancreatic：PERT with all meals + ADEK vitamins + salt supplement
  • CFRD：insulin (CGM essential, HbA1c misleading)
  • lung transplant：FEV1 < 30% + severe disease；B. cepacia exclusion

309.4.3 🎯 盧醫師的考前提醒

  1. F508del 是最常見 CFTR mutation（70% Caucasian alleles）；Class II (misfolded, degraded)；ETI 是 game-changer
  2. CFTR modulator 革命三階段：ivacaftor (2012, G551D class III) → ETI (2019, F508del + many) — current standard ~90% 病人
  3. sweat chloride 診斷 thresholds：≥ 60 mmol/L positive、30-59 borderline、< 30 negative；pilocarpine iontophoresis 標準方法
  4. lung pathogens age-dependent：早期 S. aureus + H. influenzae → 青少年/成人 Pseudomonas → adult B. cepacia + NTM (MAC, M. abscessus) + Aspergillus (ABPA)
  5. B. cepacia complex 最差預後：multi-drug resistant；many lung transplant centers exclude；“cepacia syndrome” 急性惡化
  6. CFRD 特徵：combined insulin deficiency + resistance；HbA1c misleading due to RBC turnover；CGM essential；insulin only treatment
  7. CBAVD：CF male 98% infertility from congenital bilateral absence of vas deferens；IVF / ICSI option；ETI 對 sperm production 沒有 dramatic effect
  8. DIOS (distal intestinal obstruction syndrome) 是 CF 成人 GI 急症；油類液體 + 對比 enema 治療
  9. CFRD-related complications：retinopathy + nephropathy + macrovascular — 同 type 1/2 DM
  10. survival 大躍進：median 30s (pre-modulator) → ≥ 60 expected for newborns (post-ETI era)；adult CF centers > pediatric now