Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease

D. A. O'Sullivan, V. E. Torres, P. A. Gabow, S. N. Thibodeau, B. F. King, E. J. Bergstralh

Research output: Contribution to journalArticle

55 Scopus citations

Abstract

Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease (ADPKD) have shown that the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is present in the apical surface of these cells and mediates chloride (CL-) and fluid secretion in vitro. To determine whether the presence of CF with the expression of mutated CFTR proteins modifies cyst formation in ADPKD, we studied a large family with both inherited diseases. ADPKD in this family is linked to PKD1. The family is composed of 26 members; 11 members with ADPKD, 4 members with CF, and 2 members with both diseases. Renal volumes measured by computerized tomography (CT), calculated creatinine clearances, and other clinical parameters in the family members with ADPKD and CF were compared with those in the family members with ADPKD alone, as well as to a large population of patients with ADPKD. The patients with CF and ADPKD, but not the CF heterozygote carriers with ADPKD, had less severe polycystic kidney and liver disease, as indicated by normal renal function; smaller renal volume, even when corrected for height and body surface area; and the absence of hypertension and liver cysts. These observations suggest that the coexistence of CF may reduce the severity of ADPKD.

Original languageEnglish (US)
Pages (from-to)976-983
Number of pages8
JournalAmerican Journal of Kidney Diseases
Volume32
Issue number6
DOIs
StatePublished - Jan 1 1998

Keywords

  • Autosomal dominant polycystic kidney disease
  • Cystic fibrosis
  • Cystic fibrosis transmembrane conductance regulator

ASJC Scopus subject areas

  • Nephrology

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