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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.

Thakur P, Speer P, Rajkovic A - Case Rep Genet (2014)

Bottom Line: In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified.A second, previously unreported de novo mutation, c.5909-2delA, was also identified.This mutation affects the canonical splice site and is most likely pathogenic.

View Article: PubMed Central - PubMed

Affiliation: Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA.

ABSTRACT
We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid index. Follow-up ultrasound at 23 weeks and 5 days revealed persistently enlarged, hyperechoic fetal kidneys. Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.

No MeSH data available.


Related in: MedlinePlus

(a) Coronal images of the fetal kidneys at 19 weeks and 4 days of gestation. The kidneys are enlarged and echogenic. (b) Transverse images of the fetal kidneys at 19 weeks and 4 days of gestation. The amniotic fluid level was normal for gestational age.
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fig1: (a) Coronal images of the fetal kidneys at 19 weeks and 4 days of gestation. The kidneys are enlarged and echogenic. (b) Transverse images of the fetal kidneys at 19 weeks and 4 days of gestation. The amniotic fluid level was normal for gestational age.

Mentions: The current pregnancy began uneventfully until routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic kidneys. The renal volume bilaterally was greater than the 90th percentile for gestational age (Figures 1(a) and 1(b)).


Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.

Thakur P, Speer P, Rajkovic A - Case Rep Genet (2014)

(a) Coronal images of the fetal kidneys at 19 weeks and 4 days of gestation. The kidneys are enlarged and echogenic. (b) Transverse images of the fetal kidneys at 19 weeks and 4 days of gestation. The amniotic fluid level was normal for gestational age.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4120792&req=5

fig1: (a) Coronal images of the fetal kidneys at 19 weeks and 4 days of gestation. The kidneys are enlarged and echogenic. (b) Transverse images of the fetal kidneys at 19 weeks and 4 days of gestation. The amniotic fluid level was normal for gestational age.
Mentions: The current pregnancy began uneventfully until routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic kidneys. The renal volume bilaterally was greater than the 90th percentile for gestational age (Figures 1(a) and 1(b)).

Bottom Line: In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified.A second, previously unreported de novo mutation, c.5909-2delA, was also identified.This mutation affects the canonical splice site and is most likely pathogenic.

View Article: PubMed Central - PubMed

Affiliation: Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA.

ABSTRACT
We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid index. Follow-up ultrasound at 23 weeks and 5 days revealed persistently enlarged, hyperechoic fetal kidneys. Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.

No MeSH data available.


Related in: MedlinePlus