Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis.

Nancy Xu, James F. Glockner, Sandro Rossetti, Dusica Babovich-Vuksanovic, Peter C. Harris, Vicente E. Torres

Research output: Contribution to journalArticle

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited disorder characterized by the progressive enlargement of fluid-filled cysts in the kidneys and liver. Since the cystic fibrosis transmembrane conductance regulator (CFTR) Cl--channel may mediate the secretion of Cl--and fluid into the cysts, it is conceivable that coexisting cystic fibrosis (CF) in patients with ADPKD could attenuate their development. We previously reported that two patients with ADPKD coexisting with cystic fibrosis (CF) had a milder cystic phenotype than that of kindred without CFTR mutations. A subsequent report failed to confirm this protective effect. We now have identified another family with coexisting type 1 ADPKD and CF. The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member of this family with ADPKD (PKD1 mutation C508R) and CF (homozygous DeltaF508 mutation) than in her sister with ADPKD alone at comparable ages.

Original languageEnglish (US)
Pages (from-to)529-534
Number of pages6
JournalJournal of Nephrology
Volume19
Issue number4
StatePublished - Jul 2006

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Autosomal Dominant Polycystic Kidney
Cystic Fibrosis
Cyst Fluid
Cystic Fibrosis Transmembrane Conductance Regulator
Kidney
Mutation
Fluids and Secretions
Liver
Cysts
Siblings
Phenotype

ASJC Scopus subject areas

  • Nephrology

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Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis. / Xu, Nancy; Glockner, James F.; Rossetti, Sandro; Babovich-Vuksanovic, Dusica; Harris, Peter C.; Torres, Vicente E.

In: Journal of Nephrology, Vol. 19, No. 4, 07.2006, p. 529-534.

Research output: Contribution to journalArticle

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