Inherited Renal Disorders

Posted by e-Medical PPT Tuesday, October 19, 2010

Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys. It has been estimated to occur with a frequency of 1 in every 5,000 individuals in a population. The disease is bilateral in 70% of cases. Individuals with medullary sponge kidney are at increased risk for nephrolithiasis and urinary tract infection.
Liddle's syndrome or pseudoaldosteronism is an autosomal dominant disorder characterized by early, and frequently severe, hypertension associated with low plasma renin activity, metabolic alkalosis due to hypokalemia, and hypoaldosteronism .It is one of several conditions with this unusual set of characteristics known collectively as pseudohyperaldosteronism.This syndrome is caused by disregulation of an epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus.
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia), decreased acidity of blood (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic.In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid (polyhydramnios). After birth, the infant is seen to urinate and drink excessively (polyuria, and polydipsia, respectively). Like infants with the neonatal subtype, patients with classic Bartter syndrome also have polyuria, polydipsia, and a tendency to dehydration, but normal or just slightly increased urinary calcium excretion without the tendency to develop kidney stones.

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