79 - Glomerulonephropathies and Disorders of Tubular Function

Abstract

Glomerulonephropathies and disorders of tubular function are relatively rare in the neonate. Those most often noted are congenital nephrotic syndrome (CNS), renal tubular acidosis (RTA), and tubular dysfunction such as Fanconi syndrome. Nephrotic syndrome is comprised of persistent heavy proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Genetic abnormalities of structural or regulatory proteins within the glomerular basement membrane and/or podocyte lead to primary CNS. Treatment of CNS is aimed at minimizing symptoms and preventing serious complications. Renal tubular acidosis causes a non-anion gap metabolic acidosis, and treatment depends on the underlying abnormality. Inherited renal tubulopathies are rare and can be distinguished from each other in part by differences in serum potassium levels, presence of metabolic acidosis or alkalosis, presence of hypertension, and urine findings. This chapter will discuss the diagnosis, treatment, and management of these glomerulonephropathies and disorders of tubular function.