Receptoropathy

Receptoropathy is a term used to describe diseases caused by dysfunction of receptors or receptor-mediated signaling pathways. These disorders can arise from genetic mutations that alter receptor structure, expression, trafficking, ligand-binding, or downstream signaling; autoimmune antibodies that block or modulate receptor function; or pharmacologic or pathologic receptor overactivity or underactivity. Receptoropathies may affect many organ systems because receptors are widely distributed.

Common examples include autoimmune receptoropathies of the nervous system, such as myasthenia gravis, in which autoantibodies target nicotinic acetylcholine receptors at the neuromuscular junction, and autoimmune encephalitis such as anti-NMDA receptor encephalitis. Congenital or inherited receptoropathies comprise congenital myasthenic syndromes caused by mutations in acetylcholine receptor subunits or in proteins involved in receptor clustering and signaling (for example RAPSN, MUSK). Other receptoropathies include disorders of insulin signaling caused by mutations in the insulin receptor gene, leading to insulin resistance, and ciliopathy or growth hormone receptor-related conditions in which receptor signaling is impaired.

Diagnosis relies on clinical evaluation supported by laboratory tests tailored to the suspected receptor, including autoantibody assays, genetic sequencing, and functional studies (electrophysiology, receptor binding assays). Treatment is disease-specific and may involve immunotherapy (plasma exchange, IVIG, corticosteroids, rituximab) for autoimmune receptoropathies; symptom-directed therapies such as acetylcholinesterase inhibitors or amifampridine for neuromuscular junction disorders; and management of metabolic consequences in receptoropathies of metabolic signaling. Research continues to explore targeted therapies to correct receptor defects, restore signaling, or compensate for impaired pathways.