Autosomal dominant polycystic kidney disease

John C Lieske, F. Gary Toback

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is an important cause of medical morbidity in the United States that affects one-half million persons and accounts for ESRD in about 10% of the chronic dialysis population. In addition to its effects on the kidney, the disease has important manifestations in the cardiovascular system (aneurysms, hypertension) and the gastrointestinal tract (hepatic cysts). Clinically important renal complications can develop as the disease progresses that require specialized attention, such as urinary tract infection, pain, and nephrolithiasis. The underlying cellular defect that causes ADPKD has eluded investigators thus far, but abnormalities in cellular proliferation, the tubular basement membrane, and cell fluid secretion appear important in pathogenesis. Factors that mediate progressive interstitial fibrosis and failure of renal function are undefined, although rigorous control of blood pressure appears to be an important therapeutic measure. Recent advances in molecular biology have localized the abnormal gene to chromosome 16 in 90% of families, making early genetic screening of asymptomatic family members possible in many cases. A positive diagnosis may have important effects on employment status, as well as health insurance, so that family members sometimes refuse to be assessed for the presence of the disease. Because of such complex social factors, counseling of an asymptomatic individual by his or her physician is required when considering the use of screening tests for ADPKD. Inadequate patient education may still represent an impediment to early detection, genetic counseling, and timely treatment of disease complications.

Original languageEnglish (US)
Pages (from-to)1442-1450
Number of pages9
JournalJournal of the American Society of Nephrology
Volume3
Issue number8
StatePublished - Feb 1993
Externally publishedYes

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Autosomal Dominant Polycystic Kidney
Fluids and Secretions
Chromosomes, Human, Pair 16
Nephrolithiasis
Genetic Counseling
Kidney Diseases
Genetic Testing
Patient Education
Health Insurance
Cardiovascular System
Basement Membrane
Urinary Tract Infections
Chronic Kidney Failure
Renal Insufficiency
Aneurysm
Gastrointestinal Tract
Cysts
Counseling
Molecular Biology
Dialysis

Keywords

  • Cyst infection
  • Genetic screening
  • Hepatic cyst
  • Hypertension
  • Renal cyst

ASJC Scopus subject areas

  • Nephrology

Cite this

Autosomal dominant polycystic kidney disease. / Lieske, John C; Toback, F. Gary.

In: Journal of the American Society of Nephrology, Vol. 3, No. 8, 02.1993, p. 1442-1450.

Research output: Contribution to journalArticle

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