342.4 📋 章末速蚘 Summary

342.4.1 🔑 䞀句話瞜結

ADPKD (autosomal dominant polycystic kidney disease) = 最垞芋 hereditary kidney disease (1/400-1000)PKD1 (chromosome 16, 85%, more severe, ESKD ~ 60 yo) > PKD2 (chromosome 4, 15%, slower, ESKD ~ 75 yo) mutationsclinical featuresbilateral renal cysts + HTN (70-80% often early) + hematuria + flank pain + recurrent UTI + stones + progressive CKD → ESKDextrarenalliver cysts (70-90%) + intracranial Berry aneurysm (5-15% — screen if family history of aneurysm) + mitral valve prolapse (25%) + colonic diverticulosis + abdominal hernias + aortic aneurysmdiagnosisUS (modified Ravine criteria + family history); CT/MRI; Mayo Clinic Classification 1A-1E based on htTKV for risk stratificationtreatmentstandard CKD management + tolvaptan (vasopressin V2 receptor antagonist) for rapid progressors (TEMPO 3:4 2012, REPRISE 2017) — LFT monitoring + REMS programARPKD (PKHD1) = pediatric severe + hepatic fibrosis (Caroli) + pulmonary hypoplasia neonatalAlport syndrome = type IV collagen defects (COL4A5 X-linked > COL4A3/4 AR)hematuria + sensorineural hearing loss + ocular (anterior lenticonus pathognomonic) — ACE/ARB + SGLT2i emergingthin basement membrane nephropathy (TBMN) = COL4A3/4 heterozygous = benign familial hematuriaFabry disease = X-linked α-Gal-A deficiency (GLA mutation) = multi-organ (renal FSGS-like + cardiac HCM + neurologic acroparesthesias + skin angiokeratomas + ocular cornea verticillata) — ERT (agalsidase α/β) + migalastat (chaperone for amenable mutations) + pegunigalsidase (PRX-102, FDA 2023, long-acting)nephronophthisis (NPHP) = ciliopathy juvenile CKD + polyuria + anemia + growth failureTSC + VHL distinct multi-organ syndromes (angiomyolipomas/mTOR inhibitor vs cysts + RCC + hemangioblastoma + pheochromocytoma)。

342.4.2 💊 治療粟芁

  • ADPKD standardBP control (ACE/ARB) + standard CKD management (Ch335) + avoid nephrotoxins + cyst infection management
  • ADPKD-specifictolvaptan (TEMPO 3:4, REPRISE) for rapid progressors (Mayo class 1C-1E, eGFR 25-90); LFT monitoring + REMS; daily fluid 3-4 L
  • ADPKD intracranial aneurysmscreen with MRA/CTA q 5-10 yr if family hx of aneurysm; > 7 mm typically treat (coiling or clipping)
  • ARPKDsupportive + transplant for ESKD + hepatic management (Caroli, varices)
  • Alport syndromeACE/ARB (slow progression); SGLT2i emerging; hearing aids + ocular surveillance; transplant for ESKD (watch for anti-GBM in some)
  • TBMNobservation + ACE/ARB if proteinuria
  • FabryERT agalsidase α (Replagal) or β (Fabrazyme) IV q 2 weeks; migalastat (Galafold) oral for amenable mutations (~ 50% patients); pegunigalsidase (PRX-102, FDA 2023) monthly long-acting; supportive (ACE/ARB, cardiac, neuropathy)
  • NPHPsupportive + transplant for ESKD
  • TSC + angiomyolipomas > 4 cmeverolimus or sirolimus (mTOR inhibitors)
  • VHLsurveillance imaging + early surgery for RCC + hemangioblastoma

342.4.3 🎯 盧醫垫的考前提醒

  1. ADPKD genetic dichotomyPKD1 (85%, chromosome 16, polycystin-1, ESKD ~ 60 yo) vs PKD2 (15%, chromosome 4, polycystin-2, ESKD ~ 75 yo) — PKD2 progresses more slowly
  2. ADPKD extrarenal manifestations criticalliver cysts (most common 70-90%, F > M, estrogen) + intracranial Berry aneurysm (5-15%) + MV prolapse 25% + diverticulosis + abdominal hernias + aortic aneurysm
  3. Mayo Clinic Classification 1A-1E for ADPKDbased on htTKV (height-adjusted total kidney volume); guides tolvaptan eligibility (1C-1E)
  4. tolvaptan TEMPO 3:4 (2012) + REPRISE (2017)slows cyst growth + GFR decline in ADPKD; hepatotoxicity major concern (REMS + LFT monitoring) + polyuria + polydipsia (daily fluid 3-4 L)
  5. intracranial aneurysm screening in ADPKDfamily history of aneurysm OR high-risk occupation (pilot, military) → MRA/CTA q 5-10 yr> 7 mm typically treat
  6. Alport syndrome classical triadhematuria + sensorineural hearing loss (high-frequency) + ocular anterior lenticonus (pathognomonic)EM shows basket-weave appearance of GBM
  7. Alport post-transplant complicationdevelopment of anti-GBM disease against donor kidney (rare); plasmapheresis + IS
  8. Fabry disease multi-organ classic featuresrenal (proteinuria + FSGS-like, foam cells) + cardiac (concentric HCM mimicking HCM) + neurologic (acroparesthesias, stroke, hypohidrosis) + skin (angiokeratomas in “bathing trunk” distribution) + ocular (cornea verticillata)
  9. Fabry treatmentERT (agalsidase α or β IV q 2 wk) + migalastat (Galafold oral for ~ 50% with amenable mutations) + pegunigalsidase (PRX-102 FDA 2023 monthly long-acting)
  10. thin basement membrane nephropathy (TBMN) vs AlportTBMN = heterozygous COL4A3/4 = autosomal dominant; benign familial hematuria; carrier for AR Alport; observation