Familial Renal Adysplasia

Belinda Murugasu, Barbara R. Cole, Edith P. Hawkins, Susan H. Blanton, Susan B. Conley, Ronald J. Portman

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

Renal dysplasia and agenesis as isolated findings are usually considered sporadic, noninherited abnormalities. We report three kindreds with familial renal adysplasia. Two or more children were affected in each of the families and at least one member-whether proband, sibling, or parent-had a clinically silent anomaly. Normal kidneys in the parents did not preclude the occurrence of renal adysplasia in more than one child. The empiric risks for offspring and first-degree relatives were 50% and 25%, respectively, suggesting a strong genetic factor such as a major dominant gene with variable expression. Because the disease appears to be genetic in some cases of renal adysplasia, careful screening of the proband's family, subsequent children, and pregnancies is important for the purpose of accurate genetic counseling.

Original languageEnglish (US)
Pages (from-to)490-494
Number of pages5
JournalAmerican Journal of Kidney Diseases
Volume18
Issue number4
DOIs
StatePublished - Jan 1 1991
Externally publishedYes

Keywords

  • Familial
  • multicystic dysplastic kidney.
  • renal agenesis
  • renal dysplasia

ASJC Scopus subject areas

  • Nephrology

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