Question

A 10 y/o female is brought to the pediatrician because her mother noticed blood in her urine and diminished vision acuity.

HPI Her family is Mormon. Her mother suffers from chronic renal failure (CRF)

PE VS: normotension. Patient appears well-nourished; bilateral sensorineural hearing loss; bilateral cataracts.

Labs CBC/PBS: normochromic, normocytic anemia. Elevated serum creatinine and Blood Urea Nitrogen (BUN). Patient has proteinuria; hematuria with RBC casts (as explained in class!)

Gross pathology Small kidneys

Micro Pathophysiology: Longitudinal thinning and splitting of glomerular basement membrane, producing characteristic laminated appearance with glomerular sclerosis; interstitial infiltrate containing fat-filled macrophages(=LARGE FOAM CELLS). The disease is also called hereditary chronic nephritis. it is mostly caused by a defect in the alpha chain of type IV collagen.

3) Please provide a long term protocol for proper management of this patient.

Answer 1

The above symptoms and lab investigations are suggestive of alport syndrome. It is a genetic disorder characterised by glomerulonephritis, end stage renal disease, hearing and visual impairment. It is common in children with parents suffering from kidney disease.

MANAGEMENT:

No specific treatment is present for alport syndrome.

• Angiotensin converting enzyme (ACE) inhibitors and ARB (angiotensin receptor blockers) to control proteinuria and hypertension
• Hearing aids for hearing impairments.
• Visual aids for visual impairments
• End stage kidney disease requires kidney transplant
• Low intake of sodium