Hereditary Nephropathy

Pediatric hereditary nephropathy refers to a group of inherited kidney disorders that typically present in childhood. These disorders are caused by genetic mutations affecting the structure or function of kidney tissues, particularly the glomeruli, tubules, or basement membrane. Early recognition and diagnosis are essential for preventing disease progression and preserving kidney function.

• Hematuria (visible or microscopic)
• Proteinuria
• High blood pressure
• Edema (swelling of face, legs, or abdomen)
• Fatigue, poor appetite, or growth delay
• Hearing loss (especially in Alport syndrome)
• Polyuria or nocturia (in tubulointerstitial disorders)

• Genetic mutations (autosomal dominant, autosomal recessive, or X-linked inheritance)
• Mutations in genes encoding structural proteins of the glomerular basement membrane or tubular function

• Family history of kidney disease
• Known genetic disorders in relatives
• Consanguineous parents
• Syndromic features such as hearing loss or eye abnormalities

While hereditary nephropathies cannot be completely prevented, the following measures may help reduce disease burden and facilitate early intervention:

• Genetic counseling for at-risk families
• Prenatal diagnosis in families with known mutations
• Early screening and monitoring in siblings of affected patients
• Regular follow-up with a pediatric nephrologist
• Lifestyle measures to protect kidney function (e.g., blood pressure control, avoiding nephrotoxic drugs)