Biology Transport Abnormalities & Systemic Manifestations of Channelopathies

General Biology Transport Abnormalities

Cystic Fibrosis

CFTR chloride ion channel mutation Poor Thick mucus buildup in lungs and digestive tract

Familial Hypercholesterolemia

Receptor-Mediated Endocytosis (LDLR) Premature atherosclerosis and cardiovascular disease

Niemann-Pick Type C

Intracellular Lipid Trafficking (NPC1) Lysosomal cholesterol accumulation; neurodegeneration

Cystinuria

Amino Acid Transporters in Kidney > Formation of severe cystine kidney stones

Nephrogenic Diabetes Insipidus

Water Channels (Aquaporin-2) > Inability to concentrate urine; extreme polyuria

Long QT Syndrome

Defective cardiac ion channels Altered repolarization → dangerous> arrhythmias and syncope

Periodic Paralysis

Skeletal muscle Na+ or Ca2+ channel mutations Disrupted excitability → episodes of profound weakness or temporary paralysis

Renal Disorders

Conditions like Nephrogenic Diabetes Insipidus occur due to defective vasopressin V2 receptors or Aquaporin-2 water channels