Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease.
Am J Kidney Dis
; 40(1): 16-20, 2002 Jul.
Article
en En
| MEDLINE
| ID: mdl-12087556
ABSTRACT
BACKGROUND:
Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 500 to 1,000 live births. Mutations in one of two genes, PKD1 and PKD2, account for the disease in most ADPKD families. Despite the relative high frequency of PKD1 mutant alleles, compound heterozygotes or diseased homozygotes have not been described. METHODS ANDRESULTS:
We report a family with type 1 ADPKD in which the marriage between affected first-degree cousins resulted in two live-born heterozygous offspring and two fetuses lost in late pregnancy. Genetic analysis with PKD1 and PKD2 flanking markers showed that this family is PKD1 linked (z(max) = 1.66 and -2.54 at thetas = 0.0 for intragenic markers for PKD1 [ie, KG8] and PKD2 [ie, SPP1], respectively).CONCLUSION:
Given a 25% chance for mutant homozygosity in the offspring of this family, our findings suggest that homozygosity of PKD1 mutations in humans is embryonically lethal, as recently documented in Pkd1 knockout mice.
Search on Google
Banco de datos:
MEDLINE
Asunto principal:
Aborto Habitual
/
Riñón Poliquístico Autosómico Dominante
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Año:
2002
Tipo del documento:
Article