Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease

Document Type : case report

Authors

1 Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

2 Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Abstract

Background
Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease.
Case Report
In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were heterozygote for a missense mutation in PKHD1 gene (NM_170724, c.9107T>G, p.V3036G).
Conclusion
Unlike previous studies which showed the association between missense mutations of PKHD1 gene and mild phenotype of ARPKD, we have demonstrated the presence of a certain heterozygote missense mutation in parents of a patient affected with lethal form of disorder. Such phenotypic variations should be considered in genetic counseling of families especially those seeking prenatal diagnosis.

Keywords

Journal of Pediatric Perspectives
Volume 6, Issue 2 - Serial Number 50
February 2018
Pages 7033-7037

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