Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis
✍ Scribed by Kobayashi, Megumi ;Kaplan, Bernard S. ;Bellah, Richard D. ;Sartore, Maria ;Rappaport, Eric ;Steele, Mark W. ;Mansfield, Elaine ;Gasparini, Paolo ;Surrey, Saul ;Fortina, Paolo
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 657 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
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 grand‐mother), 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 geno‐typing 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. © 1995 Wiley‐Liss, Inc.