342.2 🩺 國考版

342.2.1 高頻考點

342.2.1.1 ADPKD

  • 1/400-1000 prevalence
  • PKD1 (85%, chromosome 16) > PKD2 (15%, chromosome 4)
  • PKD1 more severe; PKD2 slower
  • Bilateral renal cysts + extrarenal
  • HTN often early
  • ESKD ~ 50% by 60 yo (PKD1); ~ 75 (PKD2)

342.2.1.2 Extrarenal Manifestations ADPKD

  • Liver cysts (70-90%)
  • Intracranial (Berry) aneurysm (5-15%)
  • MV prolapse (25%)
  • Diverticulosis
  • Abdominal hernias
  • Aortic aneurysm

342.2.1.3 Mayo Clinic Classification (1A-1E)

  • Based on htTKV
  • 1A slowest; 1E fastest
  • Guides tolvaptan use

342.2.1.4 Tolvaptan

  • V2 receptor antagonist
  • TEMPO 3:4 (2012), REPRISE (2017)
  • For rapid progressors
  • LFT monitoring (hepatotoxicity)
  • REMS program

342.2.1.5 Intracranial Aneurysm Screening

  • Family history of aneurysm
  • High-risk occupation
  • MRA or CTA q 5-10 years

342.2.1.6 ARPKD

  • PKHD1 (autosomal recessive)
  • Pediatric, severe
  • Hepatic fibrosis (Caroli)
  • Pulmonary hypoplasia (severe neonatal)

342.2.1.7 Alport Syndrome

  • COL4A5 (X-linked, most), COL4A3/4 (AR)
  • Hematuria + sensorineural hearing loss + ocular (anterior lenticonus)
  • ACE/ARB; SGLT2i emerging
  • Post-transplant: anti-GBM disease risk

342.2.1.8 Thin GBM Disease

  • COL4A3/4 heterozygous
  • Benign familial hematuria
  • Rarely progresses

342.2.1.9 Fabry Disease

  • X-linked, α-Gal-A deficiency
  • Globotriaosylceramide accumulation
  • Renal (FSGS-like) + cardiac (HCM) + neurologic (acroparesthesias, stroke) + skin (angiokeratomas) + ocular (cornea verticillata)
  • ERT: agalsidase α/β
  • Migalastat for amenable mutations
  • Pegunigalsidase (FDA 2023, long-acting)

342.2.1.10 Nephronophthisis (NPHP)

  • Ciliopathy
  • Juvenile-onset CKD
  • Polyuria + polydipsia
  • Anemia + growth failure
  • Genetic testing

342.2.1.11 TSC

  • Angiomyolipomas
  • mTOR inhibitor (everolimus, sirolimus)

342.2.1.12 VHL

  • Renal cysts + RCC + CNS hemangioblastoma + pheochromocytoma + retinal

342.2.2 易混淆比范

Disease Genetics Key Features Treatment
ADPKD AD, PKD1/2 Bilateral cysts + extrarenal Tolvaptan + standard CKD
ARPKD AR, PKHD1 Pediatric, hepatic fibrosis Supportive
Alport XL (COL4A5) Hematuria + hearing + ocular ACE/ARB
Thin GBM AD (COL4A3/4 heterozygous) Benign familial hematuria Monitor
Fabry XL, GLA Multi-organ + angiokeratomas ERT, migalastat, pegunigalsidase
NPHP Ciliopathy Juvenile CKD + polyuria Supportive
TSC TSC1/2 Angiomyolipomas + LAM mTOR inhibitor
VHL VHL gene Cysts + RCC + hemangioblastoma Surveillance + surgery

342.2.3 Special Topics

342.2.3.1 ADPKD Diagnostic Criteria

  • Family history + age-appropriate cysts:
    • 15-39 yo: ≥ 3 cysts (any location)
    • 40+ yo: ≥ 2 cysts each kidney
  • Or genetic testing

342.2.3.2 Tolvaptan Side Effects

  • Hepatotoxicity (LFT q 1 mo first 18 mo, then q 3 mo)
  • Polyuria, polydipsia, thirst
  • Hyperphosphatemia (some)
  • Hyperuricemia
  • REMS program enrollment

342.2.3.3 Tolvaptan Eligibility

  • Rapidly progressing (Mayo class 1C-1E, or Cr/age criteria)
  • eGFR 25-90 typically
  • Multidisciplinary discussion

342.2.3.4 Anti-GBM Post Alport Transplant

  • Patient with truncating mutation (no α3 collagen) develops antibodies to donor α3 collagen
  • Rare but recognized
  • Plasmapheresis + IS