Metabolic and Hereditary Disorders

Alport Syndrome

genetic disorder showing lamellated and thinnimg glomerular basement membrane

Alport Syndrome

slow progression to nephrotic syndrome & end-stage renal disease

microalbuminuria

primary urinalysis result for Alport syndrome

genetic testing

significant test for Alport syndrome

Acute Tubular Necrosis

damage to renal tubular cells caused by ischemia or toxic agents

Acute Tubular Necrosis

acute onset of renal dysfunction usually resolved when underlying cause is corrected

Acute Tubular Necrosis

• microscopic hematuria

• proteinuria

• renal tubular epithelial cells

• hyaline, granular, waxy, broad casts

• Hgb

• Hct

• Cardiac enzymes

other significant tests for acute tubular necrosis

Fanconi syndrome

• inherited in association w/ cystinosis & Hartnup disease

• acquired through exposure to toxic agents

Fanconi syndrome

generalized defect in renal tubular absorption requiring supportive therapy

• glucosuria

• possible cystine crystals

primary urinalysis result of Fanconi syndrome

• serum & urine electrolytes

• amino acid chromatography

significant tests for Fanconi syndrome

Uromodulin-associated Kidney Disease

inherited defect in the production of normal uromodulin by the renal tubules & increased uric acid → gout

Uromodulin-associated Kidney Disease

continual monitoring of renal function for progression to renal failure & possible kidney transplantation

RTE cells

primary urinalysis result of uromodulin-associated kidney disease

serum uric acid

significant test for uromodulin-associated kidney disease

Nephrogenic diabetes insipidus

• inherited defect of tubular response to ADH

• acquired from medications

Nephrogenic diabetes insipidus

requires supportive therapy to prevent dehydration

• low SG

• polyuria

primary urinalysis result of nephrogenic diabetes insipidus

ADH testing

significant test for nephrogenic diabetes insipidus