Bartter and Gitelman Syndromes and Other Inherited Tubular Transport Abnormalities

Published on 27/03/2015 by admin

Filed under Pediatrics

Last modified 27/03/2015

Print this page

rate 1 star rate 2 star rate 3 star rate 4 star rate 5 star
Your rating: none, Average: 0 (0 votes)

This article have been viewed 3930 times

Chapter 525 Bartter and Gitelman Syndromes and Other Inherited Tubular Transport Abnormalities

525.1 Bartter Syndrome

Rajasree Sreedharan and Ellis D. Avner

Bartter syndrome is a group of disorders characterized by hypokalemic metabolic alkalosis with hypercalciuria and salt wasting (Chapter 52) (Table 525-1). Antenatal Bartter syndrome (types I, II, IV) (also called hyperprostaglandin E syndrome) typically manifests in infancy and has a more-severe phenotype than classic Bartter syndrome (type III), including maternal polyhydramnios, neonatal salt wasting, and severe episodes of recurrent dehydration. The milder phenotype, classic Bartter syndrome, manifests in childhood with failure to thrive and a history of recurrent episodes of dehydration. A phenotypically related disease, Gitelman syndrome has a distinct genetic defect and is discussed in Chapter 525.2 (see Table 525-1). One distinct variant of antenatal Bartter syndrome is associated with sensorineural deafness (type IV).

Diagnosis

Buy Membership for Pediatrics Category to continue reading. Learn more here