342 Ch 341. Polycystic Kidney Disease and Hereditary Kidney Diseases

ADPKD (autosomal dominant polycystic kidney disease) 是最常見遺傳性腎臟病；全球 1/400-1000 prevalence；PKD1 (chromosome 16, 85%) > PKD2 (chromosome 4, 15%, slower progression) mutations；progressive bilateral renal cysts + extrarenal (liver cysts, intracranial aneurysm, valve abnormalities, abdominal hernias, colon diverticula)；Mayo Clinic Classification (1A-1E) for risk stratification by total kidney volume；tolvaptan (V2 receptor antagonist) approved for rapid progressors — TEMPO 3:4 (2012) + REPRISE (2017) trials；ARPKD (autosomal recessive) = pediatric, severe；Alport syndrome = X-linked or AR; type IV collagen (COL4A3/4/5); hematuria + sensorineural hearing loss + ocular；Fabry disease = X-linked, α-Gal-A deficiency; cardiac + renal + neurologic + skin (angiokeratomas); ERT (agalsidase α/β); migalastat for amenable mutations；Thin GBM disease (TBMN) = COL4A3/4 heterozygous; benign familial hematuria；nephronophthisis (NPHP) = ciliopathy; juvenile-onset CKD；2024 emerging：venglustat for ADPKD (RLY-2608 + others); pegunigalsidase for Fabry。