Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis

M. Kobayashi, B. S. Kaplan, R. D. Bellah, M. Sartore, E. Rappaport, M. W. Steele, E. Mansfield, P. Gasparini, S. Surrey, P. Fortina

Research output: Contribution to journalArticlepeer-review


Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three-generation kindred of a spectrum of kidney anomalies consistent with an autosomal-dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grandmother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband's mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3'-HVR, GGG1, GGG9, SM-7, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD-1) and tuberous sclerosis (TSC-2) loci on chromosome 16p was evaluated by Southern blot studies and by PCR-based, fluorescent genotyping for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half-sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal-dominant mode of transmission with variable expression and incomplete penetrance.

Original languageEnglish
Pages (from-to)218-224
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
Publication statusPublished - 1995


  • autosomal-dominant disease
  • chromosome 16
  • genetic analysis
  • multicystic kidney disease
  • polymerase chain reaction

ASJC Scopus subject areas

  • Genetics(clinical)


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