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X-Linked Hereditary Nephropathy

Genetic Test

The XLHN (X-linked Hereditary Nephropathy) gene is believed to regulate the structure and synthesis of critical proteins composing the glomerular basement membrane (GBM) in the kidney. Mutations in this gene impair the function of collagen and related proteins that form the GBM, leading to abnormal permeability of the glomerular filtration barrier. This causes excessive loss of protein into the urine (proteinuria) and progressive damage to kidney tissue, potentially resulting in chronic renal failure.

Disease Description

X-linked hereditary nephropathy caused by mutations in the XLHN gene is a congenital kidney disease characterized by immature or structurally abnormal renal tissue, impairing urine formation and excretion. The disease predominantly affects male dogs and often progresses to chronic renal failure. Clinical signs include proteinuria, increased urination and thirst (polyuria and polydipsia), weight loss, and decreased appetite. In advanced stages, electrolyte imbalances and uremia develop, leading to systemic illness. Without appropriate treatment, renal function deteriorates rapidly, significantly increasing mortality risk.